Canonical Allele Identifier: CA406198780

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273966C>T (hg19) ; chr19:g.43769814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769814C>T , CM000681.2:g.43769814C>T	GRCh38
NC_000019.9:g.44273966C>T , CM000681.1:g.44273966C>T	GRCh37
NC_000019.8:g.48965806C>T	NCBI36
NG_052672.1:g.17326G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.457G>A
ENST00000648053.1:n.267G>A
ENST00000648319.1:c.835G>A MANE Select	ENSP00000496939.1:p.Ala279Thr
ENST00000262888.7:c.835G>A	ENSP00000262888.3:p.Ala279Thr
ENST00000598836.1:c.14G>A
ENST00000599720.5:c.*105G>A	ENSP00000472513.1:n.*105G>A
ENST00000600408.1:c.124G>A	ENSP00000472510.1:p.Ala42Thr
ENST00000601549.1:n.144G>A
ENST00000615047.4:c.439G>A	ENSP00000485014.1:p.Ala147Thr
NM_002250.2:c.835G>A	NP_002241.1:p.Ala279Thr
XM_005258882.2:c.739G>A	XP_005258939.1:p.Ala247Thr
XM_005258883.2:c.646G>A	XP_005258940.1:p.Ala216Thr
XR_935823.1:n.2081G>A
XR_002958313.1:n.2227G>A
NM_002250.3:c.835G>A MANE Select	NP_002241.1:p.Ala279Thr