Canonical Allele Identifier: CA9491894

Gene: KCNN4

Linked Data

• dbSNP Id: rs776562583
• ExAC: 19:44273965 G / A
• gnomAD v2: 19-44273965-G-A
• gnomAD v4: 19-43769813-G-A
• MyVariant Identifiers: chr19:g.44273965G>A (hg19) ; chr19:g.43769813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769813G>A , CM000681.2:g.43769813G>A	GRCh38
NC_000019.9:g.44273965G>A , CM000681.1:g.44273965G>A	GRCh37
NC_000019.8:g.48965805G>A	NCBI36
NG_052672.1:g.17327C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.458C>T
ENST00000648053.1:n.268C>T
ENST00000648319.1:c.836C>T MANE Select	ENSP00000496939.1:p.Ala279Val
ENST00000262888.7:c.836C>T	ENSP00000262888.3:p.Ala279Val
ENST00000598836.1:c.15C>T
ENST00000599720.5:c.*106C>T	ENSP00000472513.1:n.*106C>T
ENST00000600408.1:c.125C>T	ENSP00000472510.1:p.Ala42Val
ENST00000601549.1:n.145C>T
ENST00000615047.4:c.440C>T	ENSP00000485014.1:p.Ala147Val
NM_002250.2:c.836C>T	NP_002241.1:p.Ala279Val
XM_005258882.2:c.740C>T	XP_005258939.1:p.Ala247Val
XM_005258883.2:c.647C>T	XP_005258940.1:p.Ala216Val
XR_935823.1:n.2082C>T
XR_002958313.1:n.2228C>T
NM_002250.3:c.836C>T MANE Select	NP_002241.1:p.Ala279Val