Canonical Allele Identifier: CA10487104

Gene: COL4A6

Linked Data

• dbSNP Id: rs753422300
• ExAC: X:107400474 G / A
• gnomAD v2: X-107400474-G-A
• gnomAD v3: X-108157244-G-A
• gnomAD v4: X-108157244-G-A
• MyVariant Identifiers: chrX:g.107400474G>A (hg19) ; chrX:g.108157244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157244G>A , CM000685.2:g.108157244G>A	GRCh38
NC_000023.10:g.107400474G>A , CM000685.1:g.107400474G>A	GRCh37
NC_000023.9:g.107287130G>A	NCBI36
NG_012059.2:g.287231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4829C>T MANE Select	ENSP00000334733.7:p.Ala1610Val
ENST00000334504.11:c.4829C>T	ENSP00000334733.7:p.Ala1610Val
ENST00000372216.8:c.4832C>T	ENSP00000361290.4:p.Ala1611Val
ENST00000394872.6:c.4880C>T	ENSP00000378340.3:p.Ala1627Val
ENST00000538570.5:c.4658C>T	ENSP00000445236.1:p.Ala1553Val
ENST00000545689.2:c.4793C>T	ENSP00000443707.2:p.Ala1598Val
ENST00000621266.4:c.4757C>T	ENSP00000482970.1:p.Ala1586Val
NM_001287758.1:c.4880C>T	NP_001274687.1:p.Ala1627Val
NM_001287759.1:c.4757C>T	NP_001274688.1:p.Ala1586Val
NM_001287760.1:c.4658C>T	NP_001274689.1:p.Ala1553Val
NM_001847.3:c.4832C>T	NP_001838.2:p.Ala1611Val
NM_033641.3:c.4829C>T	NP_378667.1:p.Ala1610Val
XM_006724617.2:c.4883C>T	XP_006724680.1:p.Ala1628Val
XM_011530852.1:c.4811C>T	XP_011529154.1:p.Ala1604Val
XM_011530853.1:c.4799C>T	XP_011529155.1:p.Ala1600Val
XM_006724617.3:c.4883C>T	XP_006724680.1:p.Ala1628Val
XM_011530852.2:c.4811C>T	XP_011529154.1:p.Ala1604Val
XM_011530853.3:c.4799C>T	XP_011529155.1:p.Ala1600Val
NM_001847.4:c.4832C>T	NP_001838.2:p.Ala1611Val
NM_033641.4:c.4829C>T MANE Select	NP_378667.1:p.Ala1610Val
NM_001287758.2:c.4880C>T	NP_001274687.1:p.Ala1627Val
NM_001287759.2:c.4757C>T	NP_001274688.1:p.Ala1586Val
NM_001287760.2:c.4658C>T	NP_001274689.1:p.Ala1553Val