Canonical Allele Identifier: CA507746424

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273961C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769809C>G , CM000681.2:g.43769809C>G	GRCh38
NC_000019.9:g.44273961C>G , CM000681.1:g.44273961C>G	GRCh37
NC_000019.8:g.48965801C>G	NCBI36
NG_052672.1:g.17331G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.462G>C
ENST00000648053.1:n.272G>C
ENST00000648319.1:c.840G>C MANE Select	ENSP00000496939.1:p.Leu280=
ENST00000262888.7:c.840G>C	ENSP00000262888.3:p.Leu280=
ENST00000598836.1:c.19G>C
ENST00000599720.5:c.*110G>C	ENSP00000472513.1:n.*110G>C
ENST00000600408.1:c.129G>C	ENSP00000472510.1:p.Leu43=
ENST00000601549.1:n.149G>C
ENST00000615047.4:c.444G>C	ENSP00000485014.1:p.Leu148=
NM_002250.2:c.840G>C	NP_002241.1:p.Leu280=
XM_005258882.2:c.744G>C	XP_005258939.1:p.Leu248=
XM_005258883.2:c.651G>C	XP_005258940.1:p.Leu217=
XR_935823.1:n.2086G>C
XR_002958313.1:n.2232G>C
NM_002250.3:c.840G>C MANE Select	NP_002241.1:p.Leu280=