Canonical Allele Identifier: CA550321092
Gene: CCKAR HGNC NCBI

Linked Data

dbSNP Id: rs1196393336
gnomAD v2: 4-26491730-C-A
MyVariant Identifiers: chr4:g.26491730C>A (hg19) chr4:g.26490108C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26490108C>A , CM000666.2:g.26490108C>A GRCh38
NC_000004.11:g.26491730C>A , CM000666.1:g.26491730C>A GRCh37
NC_000004.10:g.26100828C>A NCBI36
NG_012053.1:g.5313G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295589.4:c.112+48G>T MANE Select ENSP00000295589.3:n.112+48G>T
ENST00000295589.3:c.112+48G>T ENSP00000295589.3:n.112+48G>T
NM_000730.2:c.112+48G>T NP_000721.1:n.112+48G>T
NM_000730.3:c.112+48G>T MANE Select NP_000721.1:n.112+48G>T
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