Canonical Allele Identifier: CA406198443

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273928A>T (hg19) ; chr19:g.43769776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769776A>T , CM000681.2:g.43769776A>T	GRCh38
NC_000019.9:g.44273928A>T , CM000681.1:g.44273928A>T	GRCh37
NC_000019.8:g.48965768A>T	NCBI36
NG_052672.1:g.17364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.495T>A
ENST00000648053.1:n.305T>A
ENST00000648319.1:c.873T>A MANE Select	ENSP00000496939.1:p.Phe291Leu
ENST00000262888.7:c.873T>A	ENSP00000262888.3:p.Phe291Leu
ENST00000598836.1:c.52T>A
ENST00000599720.5:c.*143T>A	ENSP00000472513.1:n.*143T>A
ENST00000600408.1:c.162T>A	ENSP00000472510.1:p.Phe54Leu
ENST00000601549.1:n.182T>A
ENST00000615047.4:c.477T>A	ENSP00000485014.1:p.Phe159Leu
NM_002250.2:c.873T>A	NP_002241.1:p.Phe291Leu
XM_005258882.2:c.777T>A	XP_005258939.1:p.Phe259Leu
XM_005258883.2:c.684T>A	XP_005258940.1:p.Phe228Leu
XR_935823.1:n.2119T>A
XR_002958313.1:n.2265T>A
NM_002250.3:c.873T>A MANE Select	NP_002241.1:p.Phe291Leu