Canonical Allele Identifier: CA413848726

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157229-T-G
• MyVariant Identifiers: chrX:g.107400459T>G (hg19) ; chrX:g.108157229T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157229T>G , CM000685.2:g.108157229T>G	GRCh38
NC_000023.10:g.107400459T>G , CM000685.1:g.107400459T>G	GRCh37
NC_000023.9:g.107287115T>G	NCBI36
NG_012059.2:g.287246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4844A>C MANE Select	ENSP00000334733.7:p.Gln1615Pro
ENST00000334504.11:c.4844A>C	ENSP00000334733.7:p.Gln1615Pro
ENST00000372216.8:c.4847A>C	ENSP00000361290.4:p.Gln1616Pro
ENST00000394872.6:c.4895A>C	ENSP00000378340.3:p.Gln1632Pro
ENST00000538570.5:c.4673A>C	ENSP00000445236.1:p.Gln1558Pro
ENST00000545689.2:c.4808A>C	ENSP00000443707.2:p.Gln1603Pro
ENST00000621266.4:c.4772A>C	ENSP00000482970.1:p.Gln1591Pro
NM_001287758.1:c.4895A>C	NP_001274687.1:p.Gln1632Pro
NM_001287759.1:c.4772A>C	NP_001274688.1:p.Gln1591Pro
NM_001287760.1:c.4673A>C	NP_001274689.1:p.Gln1558Pro
NM_001847.3:c.4847A>C	NP_001838.2:p.Gln1616Pro
NM_033641.3:c.4844A>C	NP_378667.1:p.Gln1615Pro
XM_006724617.2:c.4898A>C	XP_006724680.1:p.Gln1633Pro
XM_011530852.1:c.4826A>C	XP_011529154.1:p.Gln1609Pro
XM_011530853.1:c.4814A>C	XP_011529155.1:p.Gln1605Pro
XM_006724617.3:c.4898A>C	XP_006724680.1:p.Gln1633Pro
XM_011530852.2:c.4826A>C	XP_011529154.1:p.Gln1609Pro
XM_011530853.3:c.4814A>C	XP_011529155.1:p.Gln1605Pro
NM_001847.4:c.4847A>C	NP_001838.2:p.Gln1616Pro
NM_033641.4:c.4844A>C MANE Select	NP_378667.1:p.Gln1615Pro
NM_001287758.2:c.4895A>C	NP_001274687.1:p.Gln1632Pro
NM_001287759.2:c.4772A>C	NP_001274688.1:p.Gln1591Pro
NM_001287760.2:c.4673A>C	NP_001274689.1:p.Gln1558Pro