Canonical Allele Identifier: CA518100821
Gene: COL4A6 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107400389G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157159G>A , CM000685.2:g.108157159G>A GRCh38
NC_000023.10:g.107400389G>A , CM000685.1:g.107400389G>A GRCh37
NC_000023.9:g.107287045G>A NCBI36
NG_012059.2:g.287316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4914C>T MANE Select ENSP00000334733.7:p.Ala1638=
ENST00000334504.11:c.4914C>T ENSP00000334733.7:p.Ala1638=
ENST00000372216.8:c.4917C>T ENSP00000361290.4:p.Ala1639=
ENST00000394872.6:c.4965C>T ENSP00000378340.3:p.Ala1655=
ENST00000538570.5:c.4743C>T ENSP00000445236.1:p.Ala1581=
ENST00000545689.2:c.4878C>T ENSP00000443707.2:p.Ala1626=
ENST00000621266.4:c.4842C>T ENSP00000482970.1:p.Ala1614=
NM_001287758.1:c.4965C>T NP_001274687.1:p.Ala1655=
NM_001287759.1:c.4842C>T NP_001274688.1:p.Ala1614=
NM_001287760.1:c.4743C>T NP_001274689.1:p.Ala1581=
NM_001847.3:c.4917C>T NP_001838.2:p.Ala1639=
NM_033641.3:c.4914C>T NP_378667.1:p.Ala1638=
XM_006724617.2:c.4968C>T XP_006724680.1:p.Ala1656=
XM_011530852.1:c.4896C>T XP_011529154.1:p.Ala1632=
XM_011530853.1:c.4884C>T XP_011529155.1:p.Ala1628=
XM_006724617.3:c.4968C>T XP_006724680.1:p.Ala1656=
XM_011530852.2:c.4896C>T XP_011529154.1:p.Ala1632=
XM_011530853.3:c.4884C>T XP_011529155.1:p.Ala1628=
NM_001847.4:c.4917C>T NP_001838.2:p.Ala1639=
NM_033641.4:c.4914C>T MANE Select NP_378667.1:p.Ala1638=
NM_001287758.2:c.4965C>T NP_001274687.1:p.Ala1655=
NM_001287759.2:c.4842C>T NP_001274688.1:p.Ala1614=
NM_001287760.2:c.4743C>T NP_001274689.1:p.Ala1581=