Canonical Allele Identifier: CA107757312
Gene:

Linked Data

ClinVar Variation Id: 870130
ClinVar RCV Id: RCV001089650 RCV001249583
dbSNP Id: rs13118928
gnomAD v2: 4-145486389-A-G
gnomAD v3: 4-144565237-A-G
gnomAD v4: 4-144565237-A-G
MyVariant Identifiers: chr4:g.145486389A>G (hg19) chr4:g.144565237A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144565237A>G , CM000666.2:g.144565237A>G GRCh38
NC_000004.11:g.145486389A>G , CM000666.1:g.145486389A>G GRCh37
NC_000004.10:g.145705839A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000649263.1:c.328-149259T>C ENSP00000497507.1:n.328-149259T>C
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