Canonical Allele Identifier: CA413848291

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400364T>G (hg19) ; chrX:g.108157134T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157134T>G , CM000685.2:g.108157134T>G	GRCh38
NC_000023.10:g.107400364T>G , CM000685.1:g.107400364T>G	GRCh37
NC_000023.9:g.107287020T>G	NCBI36
NG_012059.2:g.287341A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4939A>C MANE Select	ENSP00000334733.7:p.Asn1647His
ENST00000334504.11:c.4939A>C	ENSP00000334733.7:p.Asn1647His
ENST00000372216.8:c.4942A>C	ENSP00000361290.4:p.Asn1648His
ENST00000394872.6:c.4990A>C	ENSP00000378340.3:p.Asn1664His
ENST00000538570.5:c.4768A>C	ENSP00000445236.1:p.Asn1590His
ENST00000545689.2:c.4903A>C	ENSP00000443707.2:p.Asn1635His
ENST00000621266.4:c.4867A>C	ENSP00000482970.1:p.Asn1623His
NM_001287758.1:c.4990A>C	NP_001274687.1:p.Asn1664His
NM_001287759.1:c.4867A>C	NP_001274688.1:p.Asn1623His
NM_001287760.1:c.4768A>C	NP_001274689.1:p.Asn1590His
NM_001847.3:c.4942A>C	NP_001838.2:p.Asn1648His
NM_033641.3:c.4939A>C	NP_378667.1:p.Asn1647His
XM_006724617.2:c.4993A>C	XP_006724680.1:p.Asn1665His
XM_011530852.1:c.4921A>C	XP_011529154.1:p.Asn1641His
XM_011530853.1:c.4909A>C	XP_011529155.1:p.Asn1637His
XM_006724617.3:c.4993A>C	XP_006724680.1:p.Asn1665His
XM_011530852.2:c.4921A>C	XP_011529154.1:p.Asn1641His
XM_011530853.3:c.4909A>C	XP_011529155.1:p.Asn1637His
NM_001847.4:c.4942A>C	NP_001838.2:p.Asn1648His
NM_033641.4:c.4939A>C MANE Select	NP_378667.1:p.Asn1647His
NM_001287758.2:c.4990A>C	NP_001274687.1:p.Asn1664His
NM_001287759.2:c.4867A>C	NP_001274688.1:p.Asn1623His
NM_001287760.2:c.4768A>C	NP_001274689.1:p.Asn1590His