Canonical Allele Identifier: CA11829040
Gene:

Linked Data

dbSNP Id: rs2412522
gnomAD v2: 4-54938543-A-G
gnomAD v3: 4-54072376-A-G
gnomAD v4: 4-54072376-A-G
MyVariant Identifiers: chr4:g.54938543A>G (hg19) chr4:g.54072376A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072376A>G , CM000666.2:g.54072376A>G GRCh38
NC_000004.11:g.54938543A>G , CM000666.1:g.54938543A>G GRCh37
NC_000004.10:g.54633300A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202549A>G ENSP00000423325.1:n.1018-202549A>G
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