Canonical Allele Identifier: CA552316574
Gene:

Linked Data

dbSNP Id: rs1293893869
gnomAD v2: 4-75170067-A-G
MyVariant Identifiers: chr4:g.75170067A>G (hg19) chr4:g.74304350A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304350A>G , CM000666.2:g.74304350A>G GRCh38
NC_000004.11:g.75170067A>G , CM000666.1:g.75170067A>G GRCh37
NC_000004.10:g.75388931A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938877.1:n.120-25572T>C
XR_938877.2:n.126-25572T>C
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Search 100 bp 3'