Canonical Allele Identifier: CA518100841
Gene: COL4A6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107400419C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157189C>A , CM000685.2:g.108157189C>A GRCh38
NC_000023.10:g.107400419C>A , CM000685.1:g.107400419C>A GRCh37
NC_000023.9:g.107287075C>A NCBI36
NG_012059.2:g.287286G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4884G>T MANE Select ENSP00000334733.7:p.Arg1628=
ENST00000334504.11:c.4884G>T ENSP00000334733.7:p.Arg1628=
ENST00000372216.8:c.4887G>T ENSP00000361290.4:p.Arg1629=
ENST00000394872.6:c.4935G>T ENSP00000378340.3:p.Arg1645=
ENST00000538570.5:c.4713G>T ENSP00000445236.1:p.Arg1571=
ENST00000545689.2:c.4848G>T ENSP00000443707.2:p.Arg1616=
ENST00000621266.4:c.4812G>T ENSP00000482970.1:p.Arg1604=
NM_001287758.1:c.4935G>T NP_001274687.1:p.Arg1645=
NM_001287759.1:c.4812G>T NP_001274688.1:p.Arg1604=
NM_001287760.1:c.4713G>T NP_001274689.1:p.Arg1571=
NM_001847.3:c.4887G>T NP_001838.2:p.Arg1629=
NM_033641.3:c.4884G>T NP_378667.1:p.Arg1628=
XM_006724617.2:c.4938G>T XP_006724680.1:p.Arg1646=
XM_011530852.1:c.4866G>T XP_011529154.1:p.Arg1622=
XM_011530853.1:c.4854G>T XP_011529155.1:p.Arg1618=
XM_006724617.3:c.4938G>T XP_006724680.1:p.Arg1646=
XM_011530852.2:c.4866G>T XP_011529154.1:p.Arg1622=
XM_011530853.3:c.4854G>T XP_011529155.1:p.Arg1618=
NM_001847.4:c.4887G>T NP_001838.2:p.Arg1629=
NM_033641.4:c.4884G>T MANE Select NP_378667.1:p.Arg1628=
NM_001287758.2:c.4935G>T NP_001274687.1:p.Arg1645=
NM_001287759.2:c.4812G>T NP_001274688.1:p.Arg1604=
NM_001287760.2:c.4713G>T NP_001274689.1:p.Arg1571=