Canonical Allele Identifier: CA367870409

Gene: ELN

Linked Data

• gnomAD v4: 7-74047699-C-A
• MyVariant Identifiers: chr7:g.73462029C>A (hg19) ; chr7:g.74047699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74047699C>A , CM000669.2:g.74047699C>A	GRCh38
NC_000007.13:g.73462029C>A , CM000669.1:g.73462029C>A	GRCh37
NC_000007.12:g.73099965C>A	NCBI36
NG_009261.1:g.24603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.668C>A	ENSP00000510104.1:p.Thr223Lys
ENST00000252034.12:c.668C>A MANE Select	ENSP00000252034.7:p.Thr223Lys
ENST00000252034.11:c.668C>A	ENSP00000252034.7:p.Thr223Lys
ENST00000320399.10:c.668C>A	ENSP00000313565.6:p.Thr223Lys
ENST00000320492.11:c.578-443C>A	ENSP00000315607.7:n.578-443C>A
ENST00000357036.9:c.683C>A	ENSP00000349540.5:p.Thr228Lys
ENST00000358929.8:c.668C>A	ENSP00000351807.5:p.Thr223Lys
ENST00000380553.8:c.335-443C>A	ENSP00000369926.4:n.335-443C>A
ENST00000380562.8:c.668C>A	ENSP00000369936.4:p.Thr223Lys
ENST00000380575.8:c.638C>A	ENSP00000369949.4:p.Thr213Lys
ENST00000380576.9:c.668C>A	ENSP00000369950.5:p.Thr223Lys
ENST00000380584.8:c.644-443C>A	ENSP00000369958.4:n.644-443C>A
ENST00000414324.5:c.653C>A	ENSP00000392575.1:p.Thr218Lys
ENST00000417091.5:c.566C>A	ENSP00000411092.1:p.Thr189Lys
ENST00000428787.5:c.422C>A	ENSP00000399499.1:p.Thr141Lys
ENST00000429192.5:c.683C>A	ENSP00000391129.1:p.Thr228Lys
ENST00000438880.5:c.269-443C>A	ENSP00000389206.1:n.269-443C>A
ENST00000438906.5:c.602C>A	ENSP00000406949.1:p.Thr201Lys
ENST00000445912.5:c.668C>A	ENSP00000389857.1:p.Thr223Lys
ENST00000458204.5:c.638C>A	ENSP00000403162.1:p.Thr213Lys
ENST00000477397.1:n.552C>A
ENST00000493839.1:n.134C>A
ENST00000621115.4:c.536C>A	ENSP00000480955.1:p.Thr179Lys
NM_000501.3:c.668C>A	NP_000492.2:p.Thr223Lys
NM_001081752.2:c.638C>A	NP_001075221.1:p.Thr213Lys
NM_001081753.2:c.683C>A	NP_001075222.1:p.Thr228Lys
NM_001081754.2:c.683C>A	NP_001075223.1:p.Thr228Lys
NM_001081755.2:c.668C>A	NP_001075224.1:p.Thr223Lys
NM_001278912.1:c.668C>A	NP_001265841.1:p.Thr223Lys
NM_001278913.1:c.578-443C>A	NP_001265842.1:n.578-443C>A
NM_001278914.1:c.653C>A	NP_001265843.1:p.Thr218Lys
NM_001278915.1:c.668C>A	NP_001265844.1:p.Thr223Lys
NM_001278916.1:c.644-443C>A	NP_001265845.1:n.644-443C>A
NM_001278917.1:c.638C>A	NP_001265846.1:p.Thr213Lys
NM_001278918.1:c.536C>A	NP_001265847.1:p.Thr179Lys
NM_001278939.1:c.668C>A	NP_001265868.1:p.Thr223Lys
XM_005250187.1:c.632C>A	XP_005250244.1:p.Thr211Lys
XM_005250188.1:c.644-443C>A	XP_005250245.1:n.644-443C>A
XM_011515868.1:c.683C>A	XP_011514170.1:p.Thr228Lys
XM_011515869.1:c.653C>A	XP_011514171.1:p.Thr218Lys
XM_011515870.1:c.647C>A	XP_011514172.1:p.Thr216Lys
XM_011515871.1:c.659-443C>A	XP_011514173.1:n.659-443C>A
XM_011515872.1:c.683C>A	XP_011514174.1:p.Thr228Lys
XM_011515873.1:c.683C>A	XP_011514175.1:p.Thr228Lys
XM_011515874.1:c.617C>A	XP_011514176.1:p.Thr206Lys
XM_011515875.1:c.602C>A	XP_011514177.1:p.Thr201Lys
XM_011515876.1:c.683C>A	XP_011514178.1:p.Thr228Lys
XM_011515877.1:c.683C>A	XP_011514179.1:p.Thr228Lys
XM_005250187.2:c.632C>A	XP_005250244.1:p.Thr211Lys
XM_005250188.2:c.644-443C>A	XP_005250245.1:n.644-443C>A
XM_011515868.2:c.683C>A	XP_011514170.1:p.Thr228Lys
XM_011515871.2:c.659-443C>A	XP_011514173.1:n.659-443C>A
XM_011515872.2:c.683C>A	XP_011514174.1:p.Thr228Lys
XM_011515873.2:c.683C>A	XP_011514175.1:p.Thr228Lys
XM_011515875.2:c.602C>A	XP_011514177.1:p.Thr201Lys
XM_011515876.2:c.683C>A	XP_011514178.1:p.Thr228Lys
XM_011515877.2:c.683C>A	XP_011514179.1:p.Thr228Lys
XM_017011813.1:c.614-443C>A	XP_016867302.1:n.614-443C>A
XM_017011814.2:c.659-443C>A	XP_016867303.1:n.659-443C>A
NM_000501.4:c.668C>A MANE Select	NP_000492.2:p.Thr223Lys
NM_001081752.3:c.638C>A	NP_001075221.1:p.Thr213Lys
NM_001081753.3:c.683C>A	NP_001075222.1:p.Thr228Lys
NM_001081754.3:c.683C>A	NP_001075223.1:p.Thr228Lys
NM_001081755.3:c.668C>A	NP_001075224.1:p.Thr223Lys
NM_001278912.2:c.668C>A	NP_001265841.1:p.Thr223Lys
NM_001278913.2:c.578-443C>A	NP_001265842.1:n.578-443C>A
NM_001278914.2:c.653C>A	NP_001265843.1:p.Thr218Lys
NM_001278915.2:c.668C>A	NP_001265844.1:p.Thr223Lys
NM_001278916.2:c.644-443C>A	NP_001265845.1:n.644-443C>A
NM_001278917.2:c.638C>A	NP_001265846.1:p.Thr213Lys
NM_001278918.2:c.536C>A	NP_001265847.1:p.Thr179Lys
NM_001278939.2:c.668C>A	NP_001265868.1:p.Thr223Lys