ClinGen Allele Registry
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Canonical Allele Identifier:
CA751236367
Gene: KCNMB3P1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr22:g.16576248G>A
GRCh37
chr22:g.17057138G>A
Linked Data - NCBI & NCI
dbSNP:
5746647
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.16576248G>A , CM000684.2:g.16576248G>A
GRCh38
NC_000022.10:g.17057138G>A , CM000684.1:g.17057138G>A
GRCh37
NC_000022.9:g.15437138G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000493696.2:n.2504C>T
Search 100 bp 5'
Search 100 bp 3'