Canonical Allele Identifier: CA2118734016

Gene: COL4A1

Linked Data

• dbSNP Id: rs1326371475

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170526C>G , CM000675.2:g.110170526C>G	GRCh38
NC_000013.10:g.110822873C>G , CM000675.1:g.110822873C>G	GRCh37
NC_000013.9:g.109620874C>G	NCBI36
NG_011544.2:g.141624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3742+21G>C MANE Select	ENSP00000364979.4:n.3742+21G>C
ENST00000375820.8:c.3742+21G>C	ENSP00000364979.4:n.3742+21G>C
NM_001845.5:c.3742+21G>C	NP_001836.3:n.3742+21G>C
XM_011521048.1:c.3550+21G>C	XP_011519350.1:n.3550+21G>C
XM_011521048.2:c.3550+21G>C	XP_011519350.1:n.3550+21G>C
NM_001845.6:c.3742+21G>C MANE Select	NP_001836.3:n.3742+21G>C