Canonical Allele Identifier: CA367889430

Gene: ELN

Linked Data

• gnomAD v4: 7-74063189-C-A
• MyVariant Identifiers: chr7:g.73477519C>A (hg19) ; chr7:g.74063189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063189C>A , CM000669.2:g.74063189C>A	GRCh38
NC_000007.13:g.73477519C>A , CM000669.1:g.73477519C>A	GRCh37
NC_000007.12:g.73115455C>A	NCBI36
NG_009261.1:g.40093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2009C>A	ENSP00000510104.1:p.Ala670Asp
ENST00000252034.12:c.1823C>A MANE Select	ENSP00000252034.7:p.Ala608Asp
ENST00000252034.11:c.1823C>A	ENSP00000252034.7:p.Ala608Asp
ENST00000320399.10:c.1922C>A	ENSP00000313565.6:p.Ala641Asp
ENST00000320492.11:c.1580C>A	ENSP00000315607.7:p.Ala527Asp
ENST00000357036.9:c.1838C>A	ENSP00000349540.5:p.Ala613Asp
ENST00000358929.8:c.2009C>A	ENSP00000351807.5:p.Ala670Asp
ENST00000380553.8:c.1415C>A	ENSP00000369926.4:p.Ala472Asp
ENST00000380562.8:c.1841C>A	ENSP00000369936.4:p.Ala614Asp
ENST00000380575.8:c.1736C>A	ENSP00000369949.4:p.Ala579Asp
ENST00000380576.9:c.1766C>A	ENSP00000369950.5:p.Ala589Asp
ENST00000380584.8:c.1679C>A	ENSP00000369958.4:p.Ala560Asp
ENST00000414324.5:c.1751C>A	ENSP00000392575.1:p.Ala584Asp
ENST00000429192.5:c.1781C>A	ENSP00000391129.1:p.Ala594Asp
ENST00000445912.5:c.1823C>A	ENSP00000389857.1:p.Ala608Asp
ENST00000458204.5:c.1793C>A	ENSP00000403162.1:p.Ala598Asp
ENST00000621115.4:c.1556C>A	ENSP00000480955.1:p.Ala519Asp
NM_000501.3:c.1823C>A	NP_000492.2:p.Ala608Asp
NM_001081752.2:c.1736C>A	NP_001075221.1:p.Ala579Asp
NM_001081753.2:c.1781C>A	NP_001075222.1:p.Ala594Asp
NM_001081754.2:c.1838C>A	NP_001075223.1:p.Ala613Asp
NM_001081755.2:c.1766C>A	NP_001075224.1:p.Ala589Asp
NM_001278912.1:c.1823C>A	NP_001265841.1:p.Ala608Asp
NM_001278913.1:c.1580C>A	NP_001265842.1:p.Ala527Asp
NM_001278914.1:c.1751C>A	NP_001265843.1:p.Ala584Asp
NM_001278915.1:c.1841C>A	NP_001265844.1:p.Ala614Asp
NM_001278916.1:c.1679C>A	NP_001265845.1:p.Ala560Asp
NM_001278917.1:c.1793C>A	NP_001265846.1:p.Ala598Asp
NM_001278918.1:c.1556C>A	NP_001265847.1:p.Ala519Asp
NM_001278939.1:c.2009C>A	NP_001265868.1:p.Ala670Asp
XM_005250187.1:c.1787C>A	XP_005250244.1:p.Ala596Asp
XM_005250188.1:c.1781C>A	XP_005250245.1:p.Ala594Asp
XM_011515868.1:c.1838C>A	XP_011514170.1:p.Ala613Asp
XM_011515869.1:c.1808C>A	XP_011514171.1:p.Ala603Asp
XM_011515870.1:c.1802C>A	XP_011514172.1:p.Ala601Asp
XM_011515871.1:c.1796C>A	XP_011514173.1:p.Ala599Asp
XM_011515872.1:c.1784C>A	XP_011514174.1:p.Ala595Asp
XM_011515873.1:c.1781C>A	XP_011514175.1:p.Ala594Asp
XM_011515874.1:c.1772C>A	XP_011514176.1:p.Ala591Asp
XM_011515875.1:c.1757C>A	XP_011514177.1:p.Ala586Asp
XM_011515876.1:c.1838C>A	XP_011514178.1:p.Ala613Asp
XM_011515877.1:c.1727C>A	XP_011514179.1:p.Ala576Asp
XM_005250187.2:c.1787C>A	XP_005250244.1:p.Ala596Asp
XM_005250188.2:c.1781C>A	XP_005250245.1:p.Ala594Asp
XM_011515868.2:c.1838C>A	XP_011514170.1:p.Ala613Asp
XM_011515871.2:c.1796C>A	XP_011514173.1:p.Ala599Asp
XM_011515872.2:c.1784C>A	XP_011514174.1:p.Ala595Asp
XM_011515873.2:c.1781C>A	XP_011514175.1:p.Ala594Asp
XM_011515875.2:c.1757C>A	XP_011514177.1:p.Ala586Asp
XM_011515876.2:c.1838C>A	XP_011514178.1:p.Ala613Asp
XM_011515877.2:c.1727C>A	XP_011514179.1:p.Ala576Asp
XM_017011813.1:c.1751C>A	XP_016867302.1:p.Ala584Asp
XM_017011814.2:c.1739C>A	XP_016867303.1:p.Ala580Asp
NM_000501.4:c.1823C>A MANE Select	NP_000492.2:p.Ala608Asp
NM_001081752.3:c.1736C>A	NP_001075221.1:p.Ala579Asp
NM_001081753.3:c.1781C>A	NP_001075222.1:p.Ala594Asp
NM_001081754.3:c.1838C>A	NP_001075223.1:p.Ala613Asp
NM_001081755.3:c.1766C>A	NP_001075224.1:p.Ala589Asp
NM_001278912.2:c.1823C>A	NP_001265841.1:p.Ala608Asp
NM_001278913.2:c.1580C>A	NP_001265842.1:p.Ala527Asp
NM_001278914.2:c.1751C>A	NP_001265843.1:p.Ala584Asp
NM_001278915.2:c.1841C>A	NP_001265844.1:p.Ala614Asp
NM_001278916.2:c.1679C>A	NP_001265845.1:p.Ala560Asp
NM_001278917.2:c.1793C>A	NP_001265846.1:p.Ala598Asp
NM_001278918.2:c.1556C>A	NP_001265847.1:p.Ala519Asp
NM_001278939.2:c.2009C>A	NP_001265868.1:p.Ala670Asp