Canonical Allele Identifier: CA406198323

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273920G>A (hg19) ; chr19:g.43769768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769768G>A , CM000681.2:g.43769768G>A	GRCh38
NC_000019.9:g.44273920G>A , CM000681.1:g.44273920G>A	GRCh37
NC_000019.8:g.48965760G>A	NCBI36
NG_052672.1:g.17372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.503C>T
ENST00000648053.1:n.313C>T
ENST00000648319.1:c.881C>T MANE Select	ENSP00000496939.1:p.Ala294Val
ENST00000262888.7:c.881C>T	ENSP00000262888.3:p.Ala294Val
ENST00000598836.1:c.60C>T
ENST00000599720.5:c.*151C>T	ENSP00000472513.1:n.*151C>T
ENST00000600408.1:c.170C>T	ENSP00000472510.1:p.Ala57Val
ENST00000601549.1:n.190C>T
ENST00000615047.4:c.485C>T	ENSP00000485014.1:p.Ala162Val
NM_002250.2:c.881C>T	NP_002241.1:p.Ala294Val
XM_005258882.2:c.785C>T	XP_005258939.1:p.Ala262Val
XM_005258883.2:c.692C>T	XP_005258940.1:p.Ala231Val
XR_935823.1:n.2127C>T
XR_002958313.1:n.2273C>T
NM_002250.3:c.881C>T MANE Select	NP_002241.1:p.Ala294Val