Canonical Allele Identifier: CA406198773

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273966C>G (hg19) ; chr19:g.43769814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769814C>G , CM000681.2:g.43769814C>G	GRCh38
NC_000019.9:g.44273966C>G , CM000681.1:g.44273966C>G	GRCh37
NC_000019.8:g.48965806C>G	NCBI36
NG_052672.1:g.17326G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.457G>C
ENST00000648053.1:n.267G>C
ENST00000648319.1:c.835G>C MANE Select	ENSP00000496939.1:p.Ala279Pro
ENST00000262888.7:c.835G>C	ENSP00000262888.3:p.Ala279Pro
ENST00000598836.1:c.14G>C
ENST00000599720.5:c.*105G>C	ENSP00000472513.1:n.*105G>C
ENST00000600408.1:c.124G>C	ENSP00000472510.1:p.Ala42Pro
ENST00000601549.1:n.144G>C
ENST00000615047.4:c.439G>C	ENSP00000485014.1:p.Ala147Pro
NM_002250.2:c.835G>C	NP_002241.1:p.Ala279Pro
XM_005258882.2:c.739G>C	XP_005258939.1:p.Ala247Pro
XM_005258883.2:c.646G>C	XP_005258940.1:p.Ala216Pro
XR_935823.1:n.2081G>C
XR_002958313.1:n.2227G>C
NM_002250.3:c.835G>C MANE Select	NP_002241.1:p.Ala279Pro