Canonical Allele Identifier: CA388668629
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 585512
ClinVar RCV Id: RCV000710800
dbSNP Id: rs1566353677
MyVariant Identifiers: chr13:g.110831671C>T (hg19) chr13:g.110179324C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179324C>T , CM000675.2:g.110179324C>T GRCh38
NC_000013.10:g.110831671C>T , CM000675.1:g.110831671C>T GRCh37
NC_000013.9:g.109629672C>T NCBI36
NG_011544.2:g.132826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2291G>A MANE Select ENSP00000364979.4:p.Gly764Asp
ENST00000649738.1:n.2421G>A
ENST00000375820.8:c.2291G>A ENSP00000364979.4:p.Gly764Asp
NM_001845.5:c.2291G>A NP_001836.3:p.Gly764Asp
XM_011521048.1:c.2099G>A XP_011519350.1:p.Gly700Asp
XM_011521048.2:c.2099G>A XP_011519350.1:p.Gly700Asp
NM_001845.6:c.2291G>A MANE Select NP_001836.3:p.Gly764Asp
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Search 100 bp 3'