Canonical Allele Identifier: CA388661772
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs757453900
gnomAD v2: 13-110822020-C-A
gnomAD v4: 13-110169673-C-A
MyVariant Identifiers: chr13:g.110822020C>A (hg19) chr13:g.110169673C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169673C>A , CM000675.2:g.110169673C>A GRCh38
NC_000013.10:g.110822020C>A , CM000675.1:g.110822020C>A GRCh37
NC_000013.9:g.109620021C>A NCBI36
NG_011544.2:g.142477G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3832G>T MANE Select ENSP00000364979.4:p.Gly1278Cys
ENST00000375820.8:c.3832G>T ENSP00000364979.4:p.Gly1278Cys
NM_001845.5:c.3832G>T NP_001836.3:p.Gly1278Cys
XM_011521048.1:c.3640G>T XP_011519350.1:p.Gly1214Cys
XM_011521048.2:c.3640G>T XP_011519350.1:p.Gly1214Cys
NM_001845.6:c.3832G>T MANE Select NP_001836.3:p.Gly1278Cys
Search 100 bp 5'
Search 100 bp 3'