Canonical Allele Identifier: CA334034513

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108159611C>T , CM000685.2:g.108159611C>T	GRCh38
NC_000023.10:g.107402841C>T , CM000685.1:g.107402841C>T	GRCh37
NC_000023.9:g.107289497C>T	NCBI36
NG_012059.2:g.284864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4663G>A MANE Select	ENSP00000334733.7:p.Val1555Ile
ENST00000334504.11:c.4663G>A	ENSP00000334733.7:p.Val1555Ile
ENST00000372216.8:c.4666G>A	ENSP00000361290.4:p.Val1556Ile
ENST00000394872.6:c.4714G>A	ENSP00000378340.3:p.Val1572Ile
ENST00000538570.5:c.4492G>A	ENSP00000445236.1:p.Val1498Ile
ENST00000545689.2:c.4627G>A	ENSP00000443707.2:p.Val1543Ile
ENST00000621266.4:c.4591G>A	ENSP00000482970.1:p.Val1531Ile
NM_001287758.1:c.4714G>A	NP_001274687.1:p.Val1572Ile
NM_001287759.1:c.4591G>A	NP_001274688.1:p.Val1531Ile
NM_001287760.1:c.4492G>A	NP_001274689.1:p.Val1498Ile
NM_001847.3:c.4666G>A	NP_001838.2:p.Val1556Ile
NM_033641.3:c.4663G>A	NP_378667.1:p.Val1555Ile
XM_006724617.2:c.4717G>A	XP_006724680.1:p.Val1573Ile
XM_011530852.1:c.4645G>A	XP_011529154.1:p.Val1549Ile
XM_011530853.1:c.4633G>A	XP_011529155.1:p.Val1545Ile
XM_006724617.3:c.4717G>A	XP_006724680.1:p.Val1573Ile
XM_011530852.2:c.4645G>A	XP_011529154.1:p.Val1549Ile
XM_011530853.3:c.4633G>A	XP_011529155.1:p.Val1545Ile
NM_001847.4:c.4666G>A	NP_001838.2:p.Val1556Ile
NM_033641.4:c.4663G>A MANE Select	NP_378667.1:p.Val1555Ile
NM_001287758.2:c.4714G>A	NP_001274687.1:p.Val1572Ile
NM_001287759.2:c.4591G>A	NP_001274688.1:p.Val1531Ile
NM_001287760.2:c.4492G>A	NP_001274689.1:p.Val1498Ile