Canonical Allele Identifier: CA406198635

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273948C>A (hg19) ; chr19:g.43769796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769796C>A , CM000681.2:g.43769796C>A	GRCh38
NC_000019.9:g.44273948C>A , CM000681.1:g.44273948C>A	GRCh37
NC_000019.8:g.48965788C>A	NCBI36
NG_052672.1:g.17344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.475G>T
ENST00000648053.1:n.285G>T
ENST00000648319.1:c.853G>T MANE Select	ENSP00000496939.1:p.Val285Leu
ENST00000262888.7:c.853G>T	ENSP00000262888.3:p.Val285Leu
ENST00000598836.1:c.32G>T
ENST00000599720.5:c.*123G>T	ENSP00000472513.1:n.*123G>T
ENST00000600408.1:c.142G>T	ENSP00000472510.1:p.Val48Leu
ENST00000601549.1:n.162G>T
ENST00000615047.4:c.457G>T	ENSP00000485014.1:p.Val153Leu
NM_002250.2:c.853G>T	NP_002241.1:p.Val285Leu
XM_005258882.2:c.757G>T	XP_005258939.1:p.Val253Leu
XM_005258883.2:c.664G>T	XP_005258940.1:p.Val222Leu
XR_935823.1:n.2099G>T
XR_002958313.1:n.2245G>T
NM_002250.3:c.853G>T MANE Select	NP_002241.1:p.Val285Leu