Canonical Allele Identifier: CA16042232
Gene: KCNN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372186
ClinVar RCV Id: RCV000412652
dbSNP Id: rs1057519077
MyVariant Identifiers: chr19:g.44273956A>T (hg19) chr19:g.43769804A>T (hg38)
PubMed: PMID:4851153 PMID:26198474
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43769804A>T , CM000681.2:g.43769804A>T GRCh38
NC_000019.9:g.44273956A>T , CM000681.1:g.44273956A>T GRCh37
NC_000019.8:g.48965796A>T NCBI36
NG_052672.1:g.17336T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000601549.2:n.467T>A
ENST00000648053.1:n.277T>A
ENST00000648319.1:c.845T>A MANE Select ENSP00000496939.1:p.Val282Glu
ENST00000262888.7:c.845T>A ENSP00000262888.3:p.Val282Glu
ENST00000598836.1:c.24T>A
ENST00000599720.5:c.*115T>A ENSP00000472513.1:n.*115T>A
ENST00000600408.1:c.134T>A ENSP00000472510.1:p.Val45Glu
ENST00000601549.1:n.154T>A
ENST00000615047.4:c.449T>A ENSP00000485014.1:p.Val150Glu
NM_002250.2:c.845T>A NP_002241.1:p.Val282Glu
XM_005258882.2:c.749T>A XP_005258939.1:p.Val250Glu
XM_005258883.2:c.656T>A XP_005258940.1:p.Val219Glu
XR_935823.1:n.2091T>A
XR_002958313.1:n.2237T>A
NM_002250.3:c.845T>A MANE Select NP_002241.1:p.Val282Glu
Search 100 bp 5'
Search 100 bp 3'