Canonical Allele Identifier: CA413848830

Gene: COL4A6

Linked Data

• dbSNP Id: rs1326262868
• gnomAD v2: X-107400477-C-G
• gnomAD v4: X-108157247-C-G
• MyVariant Identifiers: chrX:g.107400477C>G (hg19) ; chrX:g.108157247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157247C>G , CM000685.2:g.108157247C>G	GRCh38
NC_000023.10:g.107400477C>G , CM000685.1:g.107400477C>G	GRCh37
NC_000023.9:g.107287133C>G	NCBI36
NG_012059.2:g.287228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4826G>C MANE Select	ENSP00000334733.7:p.Gly1609Ala
ENST00000334504.11:c.4826G>C	ENSP00000334733.7:p.Gly1609Ala
ENST00000372216.8:c.4829G>C	ENSP00000361290.4:p.Gly1610Ala
ENST00000394872.6:c.4877G>C	ENSP00000378340.3:p.Gly1626Ala
ENST00000538570.5:c.4655G>C	ENSP00000445236.1:p.Gly1552Ala
ENST00000545689.2:c.4790G>C	ENSP00000443707.2:p.Gly1597Ala
ENST00000621266.4:c.4754G>C	ENSP00000482970.1:p.Gly1585Ala
NM_001287758.1:c.4877G>C	NP_001274687.1:p.Gly1626Ala
NM_001287759.1:c.4754G>C	NP_001274688.1:p.Gly1585Ala
NM_001287760.1:c.4655G>C	NP_001274689.1:p.Gly1552Ala
NM_001847.3:c.4829G>C	NP_001838.2:p.Gly1610Ala
NM_033641.3:c.4826G>C	NP_378667.1:p.Gly1609Ala
XM_006724617.2:c.4880G>C	XP_006724680.1:p.Gly1627Ala
XM_011530852.1:c.4808G>C	XP_011529154.1:p.Gly1603Ala
XM_011530853.1:c.4796G>C	XP_011529155.1:p.Gly1599Ala
XM_006724617.3:c.4880G>C	XP_006724680.1:p.Gly1627Ala
XM_011530852.2:c.4808G>C	XP_011529154.1:p.Gly1603Ala
XM_011530853.3:c.4796G>C	XP_011529155.1:p.Gly1599Ala
NM_001847.4:c.4829G>C	NP_001838.2:p.Gly1610Ala
NM_033641.4:c.4826G>C MANE Select	NP_378667.1:p.Gly1609Ala
NM_001287758.2:c.4877G>C	NP_001274687.1:p.Gly1626Ala
NM_001287759.2:c.4754G>C	NP_001274688.1:p.Gly1585Ala
NM_001287760.2:c.4655G>C	NP_001274689.1:p.Gly1552Ala