Canonical Allele Identifier: CA6399868
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs772762096
ExAC: 12:5154739 G / T
gnomAD v2: 12-5154739-G-T
MyVariant Identifiers: chr12:g.5154739G>T (hg19) chr12:g.5045573G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045573G>T , CM000674.2:g.5045573G>T GRCh38
NC_000012.11:g.5154739G>T , CM000674.1:g.5154739G>T GRCh37
NC_000012.10:g.5025000G>T NCBI36
NG_012198.1:g.6655G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1426G>T MANE Select ENSP00000252321.3:p.Val476Phe
ENST00000252321.4:c.1426G>T ENSP00000252321.3:p.Val476Phe
NM_002234.3:c.1426G>T NP_002225.2:p.Val476Phe
NM_002234.4:c.1426G>T MANE Select NP_002225.2:p.Val476Phe
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