Canonical Allele Identifier: CA2118737981

Gene: COL4A1

Linked Data

• dbSNP Id: rs1248633406

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110174753C>G , CM000675.2:g.110174753C>G	GRCh38
NC_000013.10:g.110827100C>G , CM000675.1:g.110827100C>G	GRCh37
NC_000013.9:g.109625101C>G	NCBI36
NG_011544.2:g.137397G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.3199-4G>C MANE Select	ENSP00000364979.4:n.3199-4G>C
ENST00000375820.8:c.3199-4G>C	ENSP00000364979.4:n.3199-4G>C
NM_001845.5:c.3199-4G>C	NP_001836.3:n.3199-4G>C
XM_011521048.1:c.3007-4G>C	XP_011519350.1:n.3007-4G>C
XM_011521048.2:c.3007-4G>C	XP_011519350.1:n.3007-4G>C
NM_001845.6:c.3199-4G>C MANE Select	NP_001836.3:n.3199-4G>C