Canonical Allele Identifier: CA406198763

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273963G>C (hg19) ; chr19:g.43769811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769811G>C , CM000681.2:g.43769811G>C	GRCh38
NC_000019.9:g.44273963G>C , CM000681.1:g.44273963G>C	GRCh37
NC_000019.8:g.48965803G>C	NCBI36
NG_052672.1:g.17329C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.460C>G
ENST00000648053.1:n.270C>G
ENST00000648319.1:c.838C>G MANE Select	ENSP00000496939.1:p.Leu280Val
ENST00000262888.7:c.838C>G	ENSP00000262888.3:p.Leu280Val
ENST00000598836.1:c.17C>G
ENST00000599720.5:c.*108C>G	ENSP00000472513.1:n.*108C>G
ENST00000600408.1:c.127C>G	ENSP00000472510.1:p.Leu43Val
ENST00000601549.1:n.147C>G
ENST00000615047.4:c.442C>G	ENSP00000485014.1:p.Leu148Val
NM_002250.2:c.838C>G	NP_002241.1:p.Leu280Val
XM_005258882.2:c.742C>G	XP_005258939.1:p.Leu248Val
XM_005258883.2:c.649C>G	XP_005258940.1:p.Leu217Val
XR_935823.1:n.2084C>G
XR_002958313.1:n.2230C>G
NM_002250.3:c.838C>G MANE Select	NP_002241.1:p.Leu280Val