Canonical Allele Identifier: CA406198510

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273935A>T (hg19) ; chr19:g.43769783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769783A>T , CM000681.2:g.43769783A>T	GRCh38
NC_000019.9:g.44273935A>T , CM000681.1:g.44273935A>T	GRCh37
NC_000019.8:g.48965775A>T	NCBI36
NG_052672.1:g.17357T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.488T>A
ENST00000648053.1:n.298T>A
ENST00000648319.1:c.866T>A MANE Select	ENSP00000496939.1:p.Leu289Gln
ENST00000262888.7:c.866T>A	ENSP00000262888.3:p.Leu289Gln
ENST00000598836.1:c.45T>A
ENST00000599720.5:c.*136T>A	ENSP00000472513.1:n.*136T>A
ENST00000600408.1:c.155T>A	ENSP00000472510.1:p.Leu52Gln
ENST00000601549.1:n.175T>A
ENST00000615047.4:c.470T>A	ENSP00000485014.1:p.Leu157Gln
NM_002250.2:c.866T>A	NP_002241.1:p.Leu289Gln
XM_005258882.2:c.770T>A	XP_005258939.1:p.Leu257Gln
XM_005258883.2:c.677T>A	XP_005258940.1:p.Leu226Gln
XR_935823.1:n.2112T>A
XR_002958313.1:n.2258T>A
NM_002250.3:c.866T>A MANE Select	NP_002241.1:p.Leu289Gln