Canonical Allele Identifier: CA413848876

Gene: COL4A6

Linked Data

• dbSNP Id: rs2033771228
• gnomAD v3: X-108157254-C-T
• gnomAD v4: X-108157254-C-T
• MyVariant Identifiers: chrX:g.107400484C>T (hg19) ; chrX:g.108157254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157254C>T , CM000685.2:g.108157254C>T	GRCh38
NC_000023.10:g.107400484C>T , CM000685.1:g.107400484C>T	GRCh37
NC_000023.9:g.107287140C>T	NCBI36
NG_012059.2:g.287221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4819G>A MANE Select	ENSP00000334733.7:p.Ala1607Thr
ENST00000334504.11:c.4819G>A	ENSP00000334733.7:p.Ala1607Thr
ENST00000372216.8:c.4822G>A	ENSP00000361290.4:p.Ala1608Thr
ENST00000394872.6:c.4870G>A	ENSP00000378340.3:p.Ala1624Thr
ENST00000538570.5:c.4648G>A	ENSP00000445236.1:p.Ala1550Thr
ENST00000545689.2:c.4783G>A	ENSP00000443707.2:p.Ala1595Thr
ENST00000621266.4:c.4747G>A	ENSP00000482970.1:p.Ala1583Thr
NM_001287758.1:c.4870G>A	NP_001274687.1:p.Ala1624Thr
NM_001287759.1:c.4747G>A	NP_001274688.1:p.Ala1583Thr
NM_001287760.1:c.4648G>A	NP_001274689.1:p.Ala1550Thr
NM_001847.3:c.4822G>A	NP_001838.2:p.Ala1608Thr
NM_033641.3:c.4819G>A	NP_378667.1:p.Ala1607Thr
XM_006724617.2:c.4873G>A	XP_006724680.1:p.Ala1625Thr
XM_011530852.1:c.4801G>A	XP_011529154.1:p.Ala1601Thr
XM_011530853.1:c.4789G>A	XP_011529155.1:p.Ala1597Thr
XM_006724617.3:c.4873G>A	XP_006724680.1:p.Ala1625Thr
XM_011530852.2:c.4801G>A	XP_011529154.1:p.Ala1601Thr
XM_011530853.3:c.4789G>A	XP_011529155.1:p.Ala1597Thr
NM_001847.4:c.4822G>A	NP_001838.2:p.Ala1608Thr
NM_033641.4:c.4819G>A MANE Select	NP_378667.1:p.Ala1607Thr
NM_001287758.2:c.4870G>A	NP_001274687.1:p.Ala1624Thr
NM_001287759.2:c.4747G>A	NP_001274688.1:p.Ala1583Thr
NM_001287760.2:c.4648G>A	NP_001274689.1:p.Ala1550Thr