Canonical Allele Identifier: CA406198731

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273956A>G (hg19) ; chr19:g.43769804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769804A>G , CM000681.2:g.43769804A>G	GRCh38
NC_000019.9:g.44273956A>G , CM000681.1:g.44273956A>G	GRCh37
NC_000019.8:g.48965796A>G	NCBI36
NG_052672.1:g.17336T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.467T>C
ENST00000648053.1:n.277T>C
ENST00000648319.1:c.845T>C MANE Select	ENSP00000496939.1:p.Val282Ala
ENST00000262888.7:c.845T>C	ENSP00000262888.3:p.Val282Ala
ENST00000598836.1:c.24T>C
ENST00000599720.5:c.*115T>C	ENSP00000472513.1:n.*115T>C
ENST00000600408.1:c.134T>C	ENSP00000472510.1:p.Val45Ala
ENST00000601549.1:n.154T>C
ENST00000615047.4:c.449T>C	ENSP00000485014.1:p.Val150Ala
NM_002250.2:c.845T>C	NP_002241.1:p.Val282Ala
XM_005258882.2:c.749T>C	XP_005258939.1:p.Val250Ala
XM_005258883.2:c.656T>C	XP_005258940.1:p.Val219Ala
XR_935823.1:n.2091T>C
XR_002958313.1:n.2237T>C
NM_002250.3:c.845T>C MANE Select	NP_002241.1:p.Val282Ala