Canonical Allele Identifier: CA16042819
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372956
ClinVar RCV Id: RCV000414372
dbSNP Id: rs1057518100

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169708C>T , CM000675.2:g.110169708C>T GRCh38
NC_000013.10:g.110822055C>T , CM000675.1:g.110822055C>T GRCh37
NC_000013.9:g.109620056C>T NCBI36
NG_011544.2:g.142442G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3797G>A MANE Select ENSP00000364979.4:p.Gly1266Asp
ENST00000375820.8:c.3797G>A ENSP00000364979.4:p.Gly1266Asp
NM_001845.5:c.3797G>A NP_001836.3:p.Gly1266Asp
XM_011521048.1:c.3605G>A XP_011519350.1:p.Gly1202Asp
XM_011521048.2:c.3605G>A XP_011519350.1:p.Gly1202Asp
NM_001845.6:c.3797G>A MANE Select NP_001836.3:p.Gly1266Asp