Canonical Allele Identifier: CA406198748

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273960G>T (hg19) ; chr19:g.43769808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769808G>T , CM000681.2:g.43769808G>T	GRCh38
NC_000019.9:g.44273960G>T , CM000681.1:g.44273960G>T	GRCh37
NC_000019.8:g.48965800G>T	NCBI36
NG_052672.1:g.17332C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.463C>A
ENST00000648053.1:n.273C>A
ENST00000648319.1:c.841C>A MANE Select	ENSP00000496939.1:p.Leu281Met
ENST00000262888.7:c.841C>A	ENSP00000262888.3:p.Leu281Met
ENST00000598836.1:c.20C>A
ENST00000599720.5:c.*111C>A	ENSP00000472513.1:n.*111C>A
ENST00000600408.1:c.130C>A	ENSP00000472510.1:p.Leu44Met
ENST00000601549.1:n.150C>A
ENST00000615047.4:c.445C>A	ENSP00000485014.1:p.Leu149Met
NM_002250.2:c.841C>A	NP_002241.1:p.Leu281Met
XM_005258882.2:c.745C>A	XP_005258939.1:p.Leu249Met
XM_005258883.2:c.652C>A	XP_005258940.1:p.Leu218Met
XR_935823.1:n.2087C>A
XR_002958313.1:n.2233C>A
NM_002250.3:c.841C>A MANE Select	NP_002241.1:p.Leu281Met