Canonical Allele Identifier: CA2729120307

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139165360

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179153A>G , CM000675.2:g.110179153A>G	GRCh38
NC_000013.10:g.110831500A>G , CM000675.1:g.110831500A>G	GRCh37
NC_000013.9:g.109629501A>G	NCBI36
NG_011544.2:g.132997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2345-117T>C MANE Select	ENSP00000364979.4:n.2345-117T>C
ENST00000649738.1:n.2475-117T>C
ENST00000375820.8:c.2345-117T>C	ENSP00000364979.4:n.2345-117T>C
NM_001845.5:c.2345-117T>C	NP_001836.3:n.2345-117T>C
XM_011521048.1:c.2153-117T>C	XP_011519350.1:n.2153-117T>C
XM_011521048.2:c.2153-117T>C	XP_011519350.1:n.2153-117T>C
NM_001845.6:c.2345-117T>C MANE Select	NP_001836.3:n.2345-117T>C