Canonical Allele Identifier: CA2575473022

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205297C>G , CM000675.2:g.110205297C>G	GRCh38
NC_000013.10:g.110857644C>G , CM000675.1:g.110857644C>G	GRCh37
NC_000013.9:g.109655645C>G	NCBI36
NG_011544.2:g.106853G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+56G>C MANE Select	ENSP00000364979.4:n.957+56G>C
ENST00000543140.6:c.957+56G>C	ENSP00000443348.1:n.957+56G>C
ENST00000647632.1:n.646G>C
ENST00000647797.1:c.836+56G>C
ENST00000649738.1:n.1087+56G>C
ENST00000375820.8:c.957+56G>C	ENSP00000364979.4:n.957+56G>C
ENST00000543140.5:c.957+56G>C	ENSP00000443348.1:n.957+56G>C
NM_001303110.1:c.957+56G>C	NP_001290039.1:n.957+56G>C
NM_001845.5:c.957+56G>C	NP_001836.3:n.957+56G>C
XM_011521048.1:c.765+56G>C	XP_011519350.1:n.765+56G>C
XM_011521048.2:c.765+56G>C	XP_011519350.1:n.765+56G>C
NM_001845.6:c.957+56G>C MANE Select	NP_001836.3:n.957+56G>C
NM_001303110.2:c.957+56G>C	NP_001290039.1:n.957+56G>C