Canonical Allele Identifier: CA796265706
Gene:

Linked Data

dbSNP Id: rs1449900419
gnomAD v3: 4-54228387-T-A
gnomAD v4: 4-54228387-T-A
MyVariant Identifiers: chr4:g.55094554T>A (hg19) chr4:g.54228387T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228387T>A , CM000666.2:g.54228387T>A GRCh38
NC_000004.11:g.55094554T>A , CM000666.1:g.55094554T>A GRCh37
NC_000004.10:g.54789311T>A NCBI36
NG_009250.1:g.4291T>A , LRG_309:g.4291T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46538T>A ENSP00000423325.1:n.1018-46538T>A
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