Canonical Allele Identifier: CA388725547

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110210041C>G , CM000675.2:g.110210041C>G	GRCh38
NC_000013.10:g.110862388C>G , CM000675.1:g.110862388C>G	GRCh37
NC_000013.9:g.109660389C>G	NCBI36
NG_011544.2:g.102109G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.554G>C MANE Select	NP_001836.3:p.Gly185Ala
ENST00000375820.10:c.554G>C MANE Select	ENSP00000364979.4:p.Gly185Ala
NM_001303110.1:c.554G>C	NP_001290039.1:p.Gly185Ala
NM_001303110.2:c.554G>C	NP_001290039.1:p.Gly185Ala
NM_001845.5:c.554G>C	NP_001836.3:p.Gly185Ala
ENST00000375820.8:c.554G>C	ENSP00000364979.4:p.Gly185Ala
ENST00000543140.5:c.554G>C	ENSP00000443348.1:p.Gly185Ala
ENST00000543140.6:c.554G>C	ENSP00000443348.1:p.Gly185Ala
ENST00000615732.1:c.362G>C	ENSP00000478222.1:p.Gly121Ala
ENST00000615732.2:c.362G>C	ENSP00000478222.2:p.Gly121Ala
ENST00000647632.1:n.187G>C
ENST00000647797.1:c.433G>C
ENST00000648170.1:n.1122G>C
ENST00000648966.1:c.433G>C
ENST00000649484.1:c.519G>C
ENST00000649738.1:n.684G>C
XM_011521048.1:c.362G>C	XP_011519350.1:p.Gly121Ala
XM_011521048.2:c.362G>C	XP_011519350.1:p.Gly121Ala