Canonical Allele Identifier: CA16042232

Gene: KCNN4

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

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