Canonical Allele Identifier: CA413848201

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400336A>G (hg19) ; chrX:g.108157106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157106A>G , CM000685.2:g.108157106A>G	GRCh38
NC_000023.10:g.107400336A>G , CM000685.1:g.107400336A>G	GRCh37
NC_000023.9:g.107286992A>G	NCBI36
NG_012059.2:g.287369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4967T>C MANE Select	ENSP00000334733.7:p.Val1656Ala
ENST00000334504.11:c.4967T>C	ENSP00000334733.7:p.Val1656Ala
ENST00000372216.8:c.4970T>C	ENSP00000361290.4:p.Val1657Ala
ENST00000394872.6:c.5018T>C	ENSP00000378340.3:p.Val1673Ala
ENST00000538570.5:c.4796T>C	ENSP00000445236.1:p.Val1599Ala
ENST00000545689.2:c.4931T>C	ENSP00000443707.2:p.Val1644Ala
ENST00000621266.4:c.4895T>C	ENSP00000482970.1:p.Val1632Ala
NM_001287758.1:c.5018T>C	NP_001274687.1:p.Val1673Ala
NM_001287759.1:c.4895T>C	NP_001274688.1:p.Val1632Ala
NM_001287760.1:c.4796T>C	NP_001274689.1:p.Val1599Ala
NM_001847.3:c.4970T>C	NP_001838.2:p.Val1657Ala
NM_033641.3:c.4967T>C	NP_378667.1:p.Val1656Ala
XM_006724617.2:c.5021T>C	XP_006724680.1:p.Val1674Ala
XM_011530852.1:c.4949T>C	XP_011529154.1:p.Val1650Ala
XM_011530853.1:c.4937T>C	XP_011529155.1:p.Val1646Ala
XM_006724617.3:c.5021T>C	XP_006724680.1:p.Val1674Ala
XM_011530852.2:c.4949T>C	XP_011529154.1:p.Val1650Ala
XM_011530853.3:c.4937T>C	XP_011529155.1:p.Val1646Ala
NM_001847.4:c.4970T>C	NP_001838.2:p.Val1657Ala
NM_033641.4:c.4967T>C MANE Select	NP_378667.1:p.Val1656Ala
NM_001287758.2:c.5018T>C	NP_001274687.1:p.Val1673Ala
NM_001287759.2:c.4895T>C	NP_001274688.1:p.Val1632Ala
NM_001287760.2:c.4796T>C	NP_001274689.1:p.Val1599Ala