Canonical Allele Identifier: CA406198067

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273891C>G (hg19) ; chr19:g.43769739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769739C>G , CM000681.2:g.43769739C>G	GRCh38
NC_000019.9:g.44273891C>G , CM000681.1:g.44273891C>G	GRCh37
NC_000019.8:g.48965731C>G	NCBI36
NG_052672.1:g.17401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.532G>C
ENST00000648053.1:n.342G>C
ENST00000648319.1:c.910G>C MANE Select	ENSP00000496939.1:p.Asp304His
ENST00000262888.7:c.910G>C	ENSP00000262888.3:p.Asp304His
ENST00000598836.1:c.89G>C
ENST00000599720.5:c.*180G>C	ENSP00000472513.1:n.*180G>C
ENST00000600408.1:c.199G>C	ENSP00000472510.1:p.Asp67His
ENST00000601549.1:n.219G>C
ENST00000615047.4:c.514G>C	ENSP00000485014.1:p.Asp172His
NM_002250.2:c.910G>C	NP_002241.1:p.Asp304His
XM_005258882.2:c.814G>C	XP_005258939.1:p.Asp272His
XM_005258883.2:c.721G>C	XP_005258940.1:p.Asp241His
XR_935823.1:n.2156G>C
XR_002958313.1:n.2302G>C
NM_002250.3:c.910G>C MANE Select	NP_002241.1:p.Asp304His