Canonical Allele Identifier: CA406198124

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273898G>C (hg19) ; chr19:g.43769746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769746G>C , CM000681.2:g.43769746G>C	GRCh38
NC_000019.9:g.44273898G>C , CM000681.1:g.44273898G>C	GRCh37
NC_000019.8:g.48965738G>C	NCBI36
NG_052672.1:g.17394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.525C>G
ENST00000648053.1:n.335C>G
ENST00000648319.1:c.903C>G MANE Select	ENSP00000496939.1:p.Phe301Leu
ENST00000262888.7:c.903C>G	ENSP00000262888.3:p.Phe301Leu
ENST00000598836.1:c.82C>G
ENST00000599720.5:c.*173C>G	ENSP00000472513.1:n.*173C>G
ENST00000600408.1:c.192C>G	ENSP00000472510.1:p.Phe64Leu
ENST00000601549.1:n.212C>G
ENST00000615047.4:c.507C>G	ENSP00000485014.1:p.Phe169Leu
NM_002250.2:c.903C>G	NP_002241.1:p.Phe301Leu
XM_005258882.2:c.807C>G	XP_005258939.1:p.Phe269Leu
XM_005258883.2:c.714C>G	XP_005258940.1:p.Phe238Leu
XR_935823.1:n.2149C>G
XR_002958313.1:n.2295C>G
NM_002250.3:c.903C>G MANE Select	NP_002241.1:p.Phe301Leu