Canonical Allele Identifier: CA406198246

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273909C>G (hg19) ; chr19:g.43769757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769757C>G , CM000681.2:g.43769757C>G	GRCh38
NC_000019.9:g.44273909C>G , CM000681.1:g.44273909C>G	GRCh37
NC_000019.8:g.48965749C>G	NCBI36
NG_052672.1:g.17383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.514G>C
ENST00000648053.1:n.324G>C
ENST00000648319.1:c.892G>C MANE Select	ENSP00000496939.1:p.Val298Leu
ENST00000262888.7:c.892G>C	ENSP00000262888.3:p.Val298Leu
ENST00000598836.1:c.71G>C
ENST00000599720.5:c.*162G>C	ENSP00000472513.1:n.*162G>C
ENST00000600408.1:c.181G>C	ENSP00000472510.1:p.Val61Leu
ENST00000601549.1:n.201G>C
ENST00000615047.4:c.496G>C	ENSP00000485014.1:p.Val166Leu
NM_002250.2:c.892G>C	NP_002241.1:p.Val298Leu
XM_005258882.2:c.796G>C	XP_005258939.1:p.Val266Leu
XM_005258883.2:c.703G>C	XP_005258940.1:p.Val235Leu
XR_935823.1:n.2138G>C
XR_002958313.1:n.2284G>C
NM_002250.3:c.892G>C MANE Select	NP_002241.1:p.Val298Leu