Canonical Allele Identifier: CA406198724

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273954C>G (hg19) ; chr19:g.43769802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769802C>G , CM000681.2:g.43769802C>G	GRCh38
NC_000019.9:g.44273954C>G , CM000681.1:g.44273954C>G	GRCh37
NC_000019.8:g.48965794C>G	NCBI36
NG_052672.1:g.17338G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.469G>C
ENST00000648053.1:n.279G>C
ENST00000648319.1:c.847G>C MANE Select	ENSP00000496939.1:p.Ala283Pro
ENST00000262888.7:c.847G>C	ENSP00000262888.3:p.Ala283Pro
ENST00000598836.1:c.26G>C
ENST00000599720.5:c.*117G>C	ENSP00000472513.1:n.*117G>C
ENST00000600408.1:c.136G>C	ENSP00000472510.1:p.Ala46Pro
ENST00000601549.1:n.156G>C
ENST00000615047.4:c.451G>C	ENSP00000485014.1:p.Ala151Pro
NM_002250.2:c.847G>C	NP_002241.1:p.Ala283Pro
XM_005258882.2:c.751G>C	XP_005258939.1:p.Ala251Pro
XM_005258883.2:c.658G>C	XP_005258940.1:p.Ala220Pro
XR_935823.1:n.2093G>C
XR_002958313.1:n.2239G>C
NM_002250.3:c.847G>C MANE Select	NP_002241.1:p.Ala283Pro