Canonical Allele Identifier: CA796265816
Gene:

Linked Data

dbSNP Id: rs1306669995
gnomAD v3: 4-54228531-A-G
gnomAD v4: 4-54228531-A-G
MyVariant Identifiers: chr4:g.55094698A>G (hg19) chr4:g.54228531A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228531A>G , CM000666.2:g.54228531A>G GRCh38
NC_000004.11:g.55094698A>G , CM000666.1:g.55094698A>G GRCh37
NC_000004.10:g.54789455A>G NCBI36
NG_009250.1:g.4435A>G , LRG_309:g.4435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46394A>G ENSP00000423325.1:n.1018-46394A>G
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