Canonical Allele Identifier: CA388664114
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427139
ClinVar RCV Id: RCV000489567
dbSNP Id: rs1085307982
MyVariant Identifiers: chr13:g.110826255C>A (hg19) chr13:g.110173908C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173908C>A , CM000675.2:g.110173908C>A GRCh38
NC_000013.10:g.110826255C>A , CM000675.1:g.110826255C>A GRCh37
NC_000013.9:g.109624256C>A NCBI36
NG_011544.2:g.138242G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3497G>T MANE Select ENSP00000364979.4:p.Gly1166Val
ENST00000375820.8:c.3497G>T ENSP00000364979.4:p.Gly1166Val
NM_001845.5:c.3497G>T NP_001836.3:p.Gly1166Val
XM_011521048.1:c.3305G>T XP_011519350.1:p.Gly1102Val
XM_011521048.2:c.3305G>T XP_011519350.1:p.Gly1102Val
NM_001845.6:c.3497G>T MANE Select NP_001836.3:p.Gly1166Val
Search 100 bp 5'
Search 100 bp 3'