Canonical Allele Identifier: CA518100827

Gene: COL4A6

Linked Data

• dbSNP Id: rs1258425096
• gnomAD v2: X-107400398-G-A
• gnomAD v4: X-108157168-G-A
• MyVariant Identifiers: chrX:g.107400398G>A (hg19) ; chrX:g.108157168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157168G>A , CM000685.2:g.108157168G>A	GRCh38
NC_000023.10:g.107400398G>A , CM000685.1:g.107400398G>A	GRCh37
NC_000023.9:g.107287054G>A	NCBI36
NG_012059.2:g.287307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4905C>T MANE Select	ENSP00000334733.7:p.Cys1635=
ENST00000334504.11:c.4905C>T	ENSP00000334733.7:p.Cys1635=
ENST00000372216.8:c.4908C>T	ENSP00000361290.4:p.Cys1636=
ENST00000394872.6:c.4956C>T	ENSP00000378340.3:p.Cys1652=
ENST00000538570.5:c.4734C>T	ENSP00000445236.1:p.Cys1578=
ENST00000545689.2:c.4869C>T	ENSP00000443707.2:p.Cys1623=
ENST00000621266.4:c.4833C>T	ENSP00000482970.1:p.Cys1611=
NM_001287758.1:c.4956C>T	NP_001274687.1:p.Cys1652=
NM_001287759.1:c.4833C>T	NP_001274688.1:p.Cys1611=
NM_001287760.1:c.4734C>T	NP_001274689.1:p.Cys1578=
NM_001847.3:c.4908C>T	NP_001838.2:p.Cys1636=
NM_033641.3:c.4905C>T	NP_378667.1:p.Cys1635=
XM_006724617.2:c.4959C>T	XP_006724680.1:p.Cys1653=
XM_011530852.1:c.4887C>T	XP_011529154.1:p.Cys1629=
XM_011530853.1:c.4875C>T	XP_011529155.1:p.Cys1625=
XM_006724617.3:c.4959C>T	XP_006724680.1:p.Cys1653=
XM_011530852.2:c.4887C>T	XP_011529154.1:p.Cys1629=
XM_011530853.3:c.4875C>T	XP_011529155.1:p.Cys1625=
NM_001847.4:c.4908C>T	NP_001838.2:p.Cys1636=
NM_033641.4:c.4905C>T MANE Select	NP_378667.1:p.Cys1635=
NM_001287758.2:c.4956C>T	NP_001274687.1:p.Cys1652=
NM_001287759.2:c.4833C>T	NP_001274688.1:p.Cys1611=
NM_001287760.2:c.4734C>T	NP_001274689.1:p.Cys1578=