Canonical Allele Identifier: CA406197924

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273879T>G (hg19) ; chr19:g.43769727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769727T>G , CM000681.2:g.43769727T>G	GRCh38
NC_000019.9:g.44273879T>G , CM000681.1:g.44273879T>G	GRCh37
NC_000019.8:g.48965719T>G	NCBI36
NG_052672.1:g.17413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.544A>C
ENST00000648053.1:n.354A>C
ENST00000648319.1:c.922A>C MANE Select	ENSP00000496939.1:p.Thr308Pro
ENST00000262888.7:c.922A>C	ENSP00000262888.3:p.Thr308Pro
ENST00000598836.1:c.101A>C
ENST00000599720.5:c.*192A>C	ENSP00000472513.1:n.*192A>C
ENST00000600408.1:c.211A>C	ENSP00000472510.1:p.Thr71Pro
ENST00000601549.1:n.231A>C
ENST00000615047.4:c.526A>C	ENSP00000485014.1:p.Thr176Pro
NM_002250.2:c.922A>C	NP_002241.1:p.Thr308Pro
XM_005258882.2:c.826A>C	XP_005258939.1:p.Thr276Pro
XM_005258883.2:c.733A>C	XP_005258940.1:p.Thr245Pro
XR_935823.1:n.2168A>C
XR_002958313.1:n.2314A>C
NM_002250.3:c.922A>C MANE Select	NP_002241.1:p.Thr308Pro