Canonical Allele Identifier: CA406198312

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273918C>G (hg19) ; chr19:g.43769766C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769766C>G , CM000681.2:g.43769766C>G	GRCh38
NC_000019.9:g.44273918C>G , CM000681.1:g.44273918C>G	GRCh37
NC_000019.8:g.48965758C>G	NCBI36
NG_052672.1:g.17374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.505G>C
ENST00000648053.1:n.315G>C
ENST00000648319.1:c.883G>C MANE Select	ENSP00000496939.1:p.Glu295Gln
ENST00000262888.7:c.883G>C	ENSP00000262888.3:p.Glu295Gln
ENST00000598836.1:c.62G>C
ENST00000599720.5:c.*153G>C	ENSP00000472513.1:n.*153G>C
ENST00000600408.1:c.172G>C	ENSP00000472510.1:p.Glu58Gln
ENST00000601549.1:n.192G>C
ENST00000615047.4:c.487G>C	ENSP00000485014.1:p.Glu163Gln
NM_002250.2:c.883G>C	NP_002241.1:p.Glu295Gln
XM_005258882.2:c.787G>C	XP_005258939.1:p.Glu263Gln
XM_005258883.2:c.694G>C	XP_005258940.1:p.Glu232Gln
XR_935823.1:n.2129G>C
XR_002958313.1:n.2275G>C
NM_002250.3:c.883G>C MANE Select	NP_002241.1:p.Glu295Gln