Canonical Allele Identifier: CA518100867

Gene: COL4A6

Linked Data

• dbSNP Id: rs1381906608
• gnomAD v2: X-107400452-C-A
• MyVariant Identifiers: chrX:g.107400452C>A (hg19) ; chrX:g.108157222C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157222C>A , CM000685.2:g.108157222C>A	GRCh38
NC_000023.10:g.107400452C>A , CM000685.1:g.107400452C>A	GRCh37
NC_000023.9:g.107287108C>A	NCBI36
NG_012059.2:g.287253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4851G>T MANE Select	ENSP00000334733.7:p.Leu1617=
ENST00000334504.11:c.4851G>T	ENSP00000334733.7:p.Leu1617=
ENST00000372216.8:c.4854G>T	ENSP00000361290.4:p.Leu1618=
ENST00000394872.6:c.4902G>T	ENSP00000378340.3:p.Leu1634=
ENST00000538570.5:c.4680G>T	ENSP00000445236.1:p.Leu1560=
ENST00000545689.2:c.4815G>T	ENSP00000443707.2:p.Leu1605=
ENST00000621266.4:c.4779G>T	ENSP00000482970.1:p.Leu1593=
NM_001287758.1:c.4902G>T	NP_001274687.1:p.Leu1634=
NM_001287759.1:c.4779G>T	NP_001274688.1:p.Leu1593=
NM_001287760.1:c.4680G>T	NP_001274689.1:p.Leu1560=
NM_001847.3:c.4854G>T	NP_001838.2:p.Leu1618=
NM_033641.3:c.4851G>T	NP_378667.1:p.Leu1617=
XM_006724617.2:c.4905G>T	XP_006724680.1:p.Leu1635=
XM_011530852.1:c.4833G>T	XP_011529154.1:p.Leu1611=
XM_011530853.1:c.4821G>T	XP_011529155.1:p.Leu1607=
XM_006724617.3:c.4905G>T	XP_006724680.1:p.Leu1635=
XM_011530852.2:c.4833G>T	XP_011529154.1:p.Leu1611=
XM_011530853.3:c.4821G>T	XP_011529155.1:p.Leu1607=
NM_001847.4:c.4854G>T	NP_001838.2:p.Leu1618=
NM_033641.4:c.4851G>T MANE Select	NP_378667.1:p.Leu1617=
NM_001287758.2:c.4902G>T	NP_001274687.1:p.Leu1634=
NM_001287759.2:c.4779G>T	NP_001274688.1:p.Leu1593=
NM_001287760.2:c.4680G>T	NP_001274689.1:p.Leu1560=