Canonical Allele Identifier: CA413851621

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108161667G>A , CM000685.2:g.108161667G>A	GRCh38
NC_000023.10:g.107404897G>A , CM000685.1:g.107404897G>A	GRCh37
NC_000023.9:g.107291553G>A	NCBI36
NG_012059.2:g.282808C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4285C>T MANE Select	NP_378667.1:p.Leu1429Phe
ENST00000334504.12:c.4285C>T MANE Select	ENSP00000334733.7:p.Leu1429Phe
NM_001287758.1:c.4336C>T	NP_001274687.1:p.Leu1446Phe
NM_001287758.2:c.4336C>T	NP_001274687.1:p.Leu1446Phe
NM_001287759.1:c.4213C>T	NP_001274688.1:p.Leu1405Phe
NM_001287759.2:c.4213C>T	NP_001274688.1:p.Leu1405Phe
NM_001287760.1:c.4114C>T	NP_001274689.1:p.Leu1372Phe
NM_001287760.2:c.4114C>T	NP_001274689.1:p.Leu1372Phe
NM_001847.3:c.4288C>T	NP_001838.2:p.Leu1430Phe
NM_001847.4:c.4288C>T	NP_001838.2:p.Leu1430Phe
NM_033641.3:c.4285C>T	NP_378667.1:p.Leu1429Phe
ENST00000334504.11:c.4285C>T	ENSP00000334733.7:p.Leu1429Phe
ENST00000372216.8:c.4288C>T	ENSP00000361290.4:p.Leu1430Phe
ENST00000394872.6:c.4336C>T	ENSP00000378340.3:p.Leu1446Phe
ENST00000487645.1:n.776C>T
ENST00000538570.5:c.4114C>T	ENSP00000445236.1:p.Leu1372Phe
ENST00000545689.2:c.4249C>T	ENSP00000443707.2:p.Leu1417Phe
ENST00000621266.4:c.4213C>T	ENSP00000482970.1:p.Leu1405Phe
XM_006724617.2:c.4339C>T	XP_006724680.1:p.Leu1447Phe
XM_006724617.3:c.4339C>T	XP_006724680.1:p.Leu1447Phe
XM_011530852.1:c.4267C>T	XP_011529154.1:p.Leu1423Phe
XM_011530852.2:c.4267C>T	XP_011529154.1:p.Leu1423Phe
XM_011530853.1:c.4255C>T	XP_011529155.1:p.Leu1419Phe
XM_011530853.3:c.4255C>T	XP_011529155.1:p.Leu1419Phe