Canonical Allele Identifier: CA2118729708

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877325243

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110166183T>C , CM000675.2:g.110166183T>C	GRCh38
NC_000013.10:g.110818530T>C , CM000675.1:g.110818530T>C	GRCh37
NC_000013.9:g.109616531T>C	NCBI36
NG_011544.2:g.145967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.4021+49A>G MANE Select	ENSP00000364979.4:n.4021+49A>G
ENST00000650424.1:c.177+49A>G
ENST00000375820.8:c.4021+49A>G	ENSP00000364979.4:n.4021+49A>G
NM_001845.5:c.4021+49A>G	NP_001836.3:n.4021+49A>G
XM_011521048.1:c.3829+49A>G	XP_011519350.1:n.3829+49A>G
XM_011521048.2:c.3829+49A>G	XP_011519350.1:n.3829+49A>G
NM_001845.6:c.4021+49A>G MANE Select	NP_001836.3:n.4021+49A>G