Canonical Allele Identifier: CA542918785
Gene:

Linked Data

dbSNP Id: rs541851246
gnomAD v2: 3-53090899-A-C
MyVariant Identifiers: chr3:g.53090899A>C (hg19) chr3:g.53056883A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056883A>C , CM000665.2:g.53056883A>C GRCh38
NC_000003.11:g.53090899A>C , CM000665.1:g.53090899A>C GRCh37
NC_000003.10:g.53065939A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9644T>G
ENST00000607283.5:c.465-13629T>G
ENST00000607495.5:c.447+20805T>G
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