Canonical Allele Identifier: CA388668647
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676299
ClinVar RCV Id: RCV002246695
dbSNP Id: rs2139165606
MyVariant Identifiers: chr13:g.110831681C>T (hg19) chr13:g.110179334C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179334C>T , CM000675.2:g.110179334C>T GRCh38
NC_000013.10:g.110831681C>T , CM000675.1:g.110831681C>T GRCh37
NC_000013.9:g.109629682C>T NCBI36
NG_011544.2:g.132816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2281G>A MANE Select ENSP00000364979.4:p.Gly761Arg
ENST00000649738.1:n.2411G>A
ENST00000375820.8:c.2281G>A ENSP00000364979.4:p.Gly761Arg
NM_001845.5:c.2281G>A NP_001836.3:p.Gly761Arg
XM_011521048.1:c.2089G>A XP_011519350.1:p.Gly697Arg
XM_011521048.2:c.2089G>A XP_011519350.1:p.Gly697Arg
NM_001845.6:c.2281G>A MANE Select NP_001836.3:p.Gly761Arg
Search 100 bp 5'
Search 100 bp 3'