Canonical Allele Identifier: CA507746421

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273958C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769806C>G , CM000681.2:g.43769806C>G	GRCh38
NC_000019.9:g.44273958C>G , CM000681.1:g.44273958C>G	GRCh37
NC_000019.8:g.48965798C>G	NCBI36
NG_052672.1:g.17334G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.465G>C
ENST00000648053.1:n.275G>C
ENST00000648319.1:c.843G>C MANE Select	ENSP00000496939.1:p.Leu281=
ENST00000262888.7:c.843G>C	ENSP00000262888.3:p.Leu281=
ENST00000598836.1:c.22G>C
ENST00000599720.5:c.*113G>C	ENSP00000472513.1:n.*113G>C
ENST00000600408.1:c.132G>C	ENSP00000472510.1:p.Leu44=
ENST00000601549.1:n.152G>C
ENST00000615047.4:c.447G>C	ENSP00000485014.1:p.Leu149=
NM_002250.2:c.843G>C	NP_002241.1:p.Leu281=
XM_005258882.2:c.747G>C	XP_005258939.1:p.Leu249=
XM_005258883.2:c.654G>C	XP_005258940.1:p.Leu218=
XR_935823.1:n.2089G>C
XR_002958313.1:n.2235G>C
NM_002250.3:c.843G>C MANE Select	NP_002241.1:p.Leu281=