Canonical Allele Identifier: CA798375020
Gene:

Linked Data

dbSNP Id: rs1418412565
gnomAD v3: 4-74554083-A-G
gnomAD v4: 4-74554083-A-G
MyVariant Identifiers: chr4:g.74554083A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554083A>G , CM000666.2:g.74554083A>G GRCh38
NC_000004.11:g.75419800A>G , CM000666.1:g.75419800A>G GRCh37
NC_000004.10:g.75638664A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1251T>C