Canonical Allele Identifier: CA130652

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110201467G>A , CM000675.2:g.110201467G>A	GRCh38
NC_000013.10:g.110853814G>A , CM000675.1:g.110853814G>A	GRCh37
NC_000013.9:g.109651815G>A	NCBI36
NG_011544.2:g.110683C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.1055C>T MANE Select	NP_001836.3:p.Pro352Leu
ENST00000375820.10:c.1055C>T MANE Select	ENSP00000364979.4:p.Pro352Leu
NM_001303110.1:c.1055C>T	NP_001290039.1:p.Pro352Leu
NM_001303110.2:c.1055C>T	NP_001290039.1:p.Pro352Leu
NM_001845.5:c.1055C>T	NP_001836.3:p.Pro352Leu
ENST00000375820.8:c.1055C>T	ENSP00000364979.4:p.Pro352Leu
ENST00000543140.5:c.1055C>T	ENSP00000443348.1:p.Pro352Leu
ENST00000543140.6:c.1055C>T	ENSP00000443348.1:p.Pro352Leu
ENST00000647797.1:c.934C>T
ENST00000649738.1:n.1185C>T
XM_011521048.1:c.863C>T	XP_011519350.1:p.Pro288Leu
XM_011521048.2:c.863C>T	XP_011519350.1:p.Pro288Leu