Canonical Allele Identifier: CA413848466

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157181-G-C
• MyVariant Identifiers: chrX:g.107400411G>C (hg19) ; chrX:g.108157181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157181G>C , CM000685.2:g.108157181G>C	GRCh38
NC_000023.10:g.107400411G>C , CM000685.1:g.107400411G>C	GRCh37
NC_000023.9:g.107287067G>C	NCBI36
NG_012059.2:g.287294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4892C>G MANE Select	ENSP00000334733.7:p.Pro1631Arg
ENST00000334504.11:c.4892C>G	ENSP00000334733.7:p.Pro1631Arg
ENST00000372216.8:c.4895C>G	ENSP00000361290.4:p.Pro1632Arg
ENST00000394872.6:c.4943C>G	ENSP00000378340.3:p.Pro1648Arg
ENST00000538570.5:c.4721C>G	ENSP00000445236.1:p.Pro1574Arg
ENST00000545689.2:c.4856C>G	ENSP00000443707.2:p.Pro1619Arg
ENST00000621266.4:c.4820C>G	ENSP00000482970.1:p.Pro1607Arg
NM_001287758.1:c.4943C>G	NP_001274687.1:p.Pro1648Arg
NM_001287759.1:c.4820C>G	NP_001274688.1:p.Pro1607Arg
NM_001287760.1:c.4721C>G	NP_001274689.1:p.Pro1574Arg
NM_001847.3:c.4895C>G	NP_001838.2:p.Pro1632Arg
NM_033641.3:c.4892C>G	NP_378667.1:p.Pro1631Arg
XM_006724617.2:c.4946C>G	XP_006724680.1:p.Pro1649Arg
XM_011530852.1:c.4874C>G	XP_011529154.1:p.Pro1625Arg
XM_011530853.1:c.4862C>G	XP_011529155.1:p.Pro1621Arg
XM_006724617.3:c.4946C>G	XP_006724680.1:p.Pro1649Arg
XM_011530852.2:c.4874C>G	XP_011529154.1:p.Pro1625Arg
XM_011530853.3:c.4862C>G	XP_011529155.1:p.Pro1621Arg
NM_001847.4:c.4895C>G	NP_001838.2:p.Pro1632Arg
NM_033641.4:c.4892C>G MANE Select	NP_378667.1:p.Pro1631Arg
NM_001287758.2:c.4943C>G	NP_001274687.1:p.Pro1648Arg
NM_001287759.2:c.4820C>G	NP_001274688.1:p.Pro1607Arg
NM_001287760.2:c.4721C>G	NP_001274689.1:p.Pro1574Arg