Canonical Allele Identifier: CA406198788

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273968G>A (hg19) ; chr19:g.43769816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769816G>A , CM000681.2:g.43769816G>A	GRCh38
NC_000019.9:g.44273968G>A , CM000681.1:g.44273968G>A	GRCh37
NC_000019.8:g.48965808G>A	NCBI36
NG_052672.1:g.17324C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.455C>T
ENST00000648053.1:n.265C>T
ENST00000648319.1:c.833C>T MANE Select	ENSP00000496939.1:p.Thr278Ile
ENST00000262888.7:c.833C>T	ENSP00000262888.3:p.Thr278Ile
ENST00000598836.1:c.12C>T
ENST00000599720.5:c.*103C>T	ENSP00000472513.1:n.*103C>T
ENST00000600408.1:c.122C>T	ENSP00000472510.1:p.Thr41Ile
ENST00000601549.1:n.142C>T
ENST00000615047.4:c.437C>T	ENSP00000485014.1:p.Thr146Ile
NM_002250.2:c.833C>T	NP_002241.1:p.Thr278Ile
XM_005258882.2:c.737C>T	XP_005258939.1:p.Thr246Ile
XM_005258883.2:c.644C>T	XP_005258940.1:p.Thr215Ile
XR_935823.1:n.2079C>T
XR_002958313.1:n.2225C>T
NM_002250.3:c.833C>T MANE Select	NP_002241.1:p.Thr278Ile