Canonical Allele Identifier: CA16042231

Gene: KCNN4

Linked Data

• ClinVar Variation Id: 372185
• ClinVar RCV Id: RCV000412590
• dbSNP Id: rs1057519076
• MyVariant Identifiers: chr19:g.44273957C>T (hg19) ; chr19:g.43769805C>T (hg38)
• PubMed: PMID:652816 ; PMID:687829 ; PMID:6473461 ; PMID:26178367 ; PMID:26198474

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769805C>T , CM000681.2:g.43769805C>T	GRCh38
NC_000019.9:g.44273957C>T , CM000681.1:g.44273957C>T	GRCh37
NC_000019.8:g.48965797C>T	NCBI36
NG_052672.1:g.17335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.466G>A
ENST00000648053.1:n.276G>A
ENST00000648319.1:c.844G>A MANE Select	ENSP00000496939.1:p.Val282Met
ENST00000262888.7:c.844G>A	ENSP00000262888.3:p.Val282Met
ENST00000598836.1:c.23G>A
ENST00000599720.5:c.*114G>A	ENSP00000472513.1:n.*114G>A
ENST00000600408.1:c.133G>A	ENSP00000472510.1:p.Val45Met
ENST00000601549.1:n.153G>A
ENST00000615047.4:c.448G>A	ENSP00000485014.1:p.Val150Met
NM_002250.2:c.844G>A	NP_002241.1:p.Val282Met
XM_005258882.2:c.748G>A	XP_005258939.1:p.Val250Met
XM_005258883.2:c.655G>A	XP_005258940.1:p.Val219Met
XR_935823.1:n.2090G>A
XR_002958313.1:n.2236G>A
NM_002250.3:c.844G>A MANE Select	NP_002241.1:p.Val282Met