Canonical Allele Identifier: CA107971399
Gene:

Linked Data

dbSNP Id: rs2358462
gnomAD v2: 4-149570680-T-C
gnomAD v3: 4-148649528-T-C
gnomAD v4: 4-148649528-T-C
MyVariant Identifiers: chr4:g.149570680T>C (hg19) chr4:g.148649528T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649528T>C , CM000666.2:g.148649528T>C GRCh38
NC_000004.11:g.149570680T>C , CM000666.1:g.149570680T>C GRCh37
NC_000004.10:g.149790130T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30660A>G
XR_001741441.1:n.1745+104944T>C
XR_939336.3:n.2921-30660A>G
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