Canonical Allele Identifier: CA107753979
Gene:

Linked Data

dbSNP Id: rs567140117
gnomAD v2: 4-145522642-A-T
gnomAD v3: 4-144601490-A-T
gnomAD v4: 4-144601490-A-T
MyVariant Identifiers: chr4:g.145522642A>T (hg19) chr4:g.144601490A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601490A>T , CM000666.2:g.144601490A>T GRCh38
NC_000004.11:g.145522642A>T , CM000666.1:g.145522642A>T GRCh37
NC_000004.10:g.145742092A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185512T>A ENSP00000497507.1:n.328-185512T>A
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