Canonical Allele Identifier: CA10487192

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108160575C>T , CM000685.2:g.108160575C>T	GRCh38
NC_000023.10:g.107403805C>T , CM000685.1:g.107403805C>T	GRCh37
NC_000023.9:g.107290461C>T	NCBI36
NG_012059.2:g.283900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4413G>A MANE Select	ENSP00000334733.7:p.Lys1471=
ENST00000334504.11:c.4413G>A	ENSP00000334733.7:p.Lys1471=
ENST00000372216.8:c.4416G>A	ENSP00000361290.4:p.Lys1472=
ENST00000394872.6:c.4464G>A	ENSP00000378340.3:p.Lys1488=
ENST00000538570.5:c.4242G>A	ENSP00000445236.1:p.Lys1414=
ENST00000545689.2:c.4377G>A	ENSP00000443707.2:p.Lys1459=
ENST00000621266.4:c.4341G>A	ENSP00000482970.1:p.Lys1447=
NM_001287758.1:c.4464G>A	NP_001274687.1:p.Lys1488=
NM_001287759.1:c.4341G>A	NP_001274688.1:p.Lys1447=
NM_001287760.1:c.4242G>A	NP_001274689.1:p.Lys1414=
NM_001847.3:c.4416G>A	NP_001838.2:p.Lys1472=
NM_033641.3:c.4413G>A	NP_378667.1:p.Lys1471=
XM_006724617.2:c.4467G>A	XP_006724680.1:p.Lys1489=
XM_011530852.1:c.4395G>A	XP_011529154.1:p.Lys1465=
XM_011530853.1:c.4383G>A	XP_011529155.1:p.Lys1461=
XM_006724617.3:c.4467G>A	XP_006724680.1:p.Lys1489=
XM_011530852.2:c.4395G>A	XP_011529154.1:p.Lys1465=
XM_011530853.3:c.4383G>A	XP_011529155.1:p.Lys1461=
NM_001847.4:c.4416G>A	NP_001838.2:p.Lys1472=
NM_033641.4:c.4413G>A MANE Select	NP_378667.1:p.Lys1471=
NM_001287758.2:c.4464G>A	NP_001274687.1:p.Lys1488=
NM_001287759.2:c.4341G>A	NP_001274688.1:p.Lys1447=
NM_001287760.2:c.4242G>A	NP_001274689.1:p.Lys1414=