Canonical Allele Identifier: CA484789303
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877785834
gnomAD v3: 13-110174477-C-T
gnomAD v4: 13-110174477-C-T
COSMIC: COSM696030 COSM696031
MyVariant Identifiers: chr13:g.110826824C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174477C>T , CM000675.2:g.110174477C>T GRCh38
NC_000013.10:g.110826824C>T , CM000675.1:g.110826824C>T GRCh37
NC_000013.9:g.109624825C>T NCBI36
NG_011544.2:g.137673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3375G>A MANE Select ENSP00000364979.4:p.Leu1125=
ENST00000375820.8:c.3375G>A ENSP00000364979.4:p.Leu1125=
NM_001845.5:c.3375G>A NP_001836.3:p.Leu1125=
XM_011521048.1:c.3183G>A XP_011519350.1:p.Leu1061=
XM_011521048.2:c.3183G>A XP_011519350.1:p.Leu1061=
NM_001845.6:c.3375G>A MANE Select NP_001836.3:p.Leu1125=
Search 100 bp 5'
Search 100 bp 3'