Canonical Allele Identifier: CA406197845

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273870C>G (hg19) ; chr19:g.43769718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769718C>G , CM000681.2:g.43769718C>G	GRCh38
NC_000019.9:g.44273870C>G , CM000681.1:g.44273870C>G	GRCh37
NC_000019.8:g.48965710C>G	NCBI36
NG_052672.1:g.17422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.552+1G>C
ENST00000648053.1:n.362+1G>C
ENST00000648319.1:c.930+1G>C MANE Select	ENSP00000496939.1:n.930+1G>C
ENST00000262888.7:c.930+1G>C	ENSP00000262888.3:n.930+1G>C
ENST00000598836.1:c.109+1G>C
ENST00000599720.5:c.*200+1G>C	ENSP00000472513.1:n.*200+1G>C
ENST00000600408.1:c.219+1G>C	ENSP00000472510.1:n.219+1G>C
ENST00000601549.1:n.239+1G>C
ENST00000615047.4:c.534+1G>C	ENSP00000485014.1:n.534+1G>C
NM_002250.2:c.930+1G>C	NP_002241.1:n.930+1G>C
XM_005258882.2:c.834+1G>C	XP_005258939.1:n.834+1G>C
XM_005258883.2:c.741+1G>C	XP_005258940.1:n.741+1G>C
XR_935823.1:n.2176+1G>C
XR_002958313.1:n.2322+1G>C
NM_002250.3:c.930+1G>C MANE Select	NP_002241.1:n.930+1G>C