Canonical Allele Identifier: CA507746402

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273940C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769788C>A , CM000681.2:g.43769788C>A	GRCh38
NC_000019.9:g.44273940C>A , CM000681.1:g.44273940C>A	GRCh37
NC_000019.8:g.48965780C>A	NCBI36
NG_052672.1:g.17352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.483G>T
ENST00000648053.1:n.293G>T
ENST00000648319.1:c.861G>T MANE Select	ENSP00000496939.1:p.Arg287=
ENST00000262888.7:c.861G>T	ENSP00000262888.3:p.Arg287=
ENST00000598836.1:c.40G>T
ENST00000599720.5:c.*131G>T	ENSP00000472513.1:n.*131G>T
ENST00000600408.1:c.150G>T	ENSP00000472510.1:p.Arg50=
ENST00000601549.1:n.170G>T
ENST00000615047.4:c.465G>T	ENSP00000485014.1:p.Arg155=
NM_002250.2:c.861G>T	NP_002241.1:p.Arg287=
XM_005258882.2:c.765G>T	XP_005258939.1:p.Arg255=
XM_005258883.2:c.672G>T	XP_005258940.1:p.Arg224=
XR_935823.1:n.2107G>T
XR_002958313.1:n.2253G>T
NM_002250.3:c.861G>T MANE Select	NP_002241.1:p.Arg287=