Canonical Allele Identifier: CA406198767

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273965G>C (hg19) ; chr19:g.43769813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769813G>C , CM000681.2:g.43769813G>C	GRCh38
NC_000019.9:g.44273965G>C , CM000681.1:g.44273965G>C	GRCh37
NC_000019.8:g.48965805G>C	NCBI36
NG_052672.1:g.17327C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.458C>G
ENST00000648053.1:n.268C>G
ENST00000648319.1:c.836C>G MANE Select	ENSP00000496939.1:p.Ala279Gly
ENST00000262888.7:c.836C>G	ENSP00000262888.3:p.Ala279Gly
ENST00000598836.1:c.15C>G
ENST00000599720.5:c.*106C>G	ENSP00000472513.1:n.*106C>G
ENST00000600408.1:c.125C>G	ENSP00000472510.1:p.Ala42Gly
ENST00000601549.1:n.145C>G
ENST00000615047.4:c.440C>G	ENSP00000485014.1:p.Ala147Gly
NM_002250.2:c.836C>G	NP_002241.1:p.Ala279Gly
XM_005258882.2:c.740C>G	XP_005258939.1:p.Ala247Gly
XM_005258883.2:c.647C>G	XP_005258940.1:p.Ala216Gly
XR_935823.1:n.2082C>G
XR_002958313.1:n.2228C>G
NM_002250.3:c.836C>G MANE Select	NP_002241.1:p.Ala279Gly