Canonical Allele Identifier: CA406198300

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273916C>G (hg19) ; chr19:g.43769764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769764C>G , CM000681.2:g.43769764C>G	GRCh38
NC_000019.9:g.44273916C>G , CM000681.1:g.44273916C>G	GRCh37
NC_000019.8:g.48965756C>G	NCBI36
NG_052672.1:g.17376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.507G>C
ENST00000648053.1:n.317G>C
ENST00000648319.1:c.885G>C MANE Select	ENSP00000496939.1:p.Glu295Asp
ENST00000262888.7:c.885G>C	ENSP00000262888.3:p.Glu295Asp
ENST00000598836.1:c.64G>C
ENST00000599720.5:c.*155G>C	ENSP00000472513.1:n.*155G>C
ENST00000600408.1:c.174G>C	ENSP00000472510.1:p.Glu58Asp
ENST00000601549.1:n.194G>C
ENST00000615047.4:c.489G>C	ENSP00000485014.1:p.Glu163Asp
NM_002250.2:c.885G>C	NP_002241.1:p.Glu295Asp
XM_005258882.2:c.789G>C	XP_005258939.1:p.Glu263Asp
XM_005258883.2:c.696G>C	XP_005258940.1:p.Glu232Asp
XR_935823.1:n.2131G>C
XR_002958313.1:n.2277G>C
NM_002250.3:c.885G>C MANE Select	NP_002241.1:p.Glu295Asp