Canonical Allele Identifier: CA406198752

Gene: KCNN4

Linked Data

• dbSNP Id: rs1200218524
• gnomAD v2: 19-44273962-A-C
• gnomAD v3: 19-43769810-A-C
• gnomAD v4: 19-43769810-A-C
• MyVariant Identifiers: chr19:g.44273962A>C (hg19) ; chr19:g.43769810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769810A>C , CM000681.2:g.43769810A>C	GRCh38
NC_000019.9:g.44273962A>C , CM000681.1:g.44273962A>C	GRCh37
NC_000019.8:g.48965802A>C	NCBI36
NG_052672.1:g.17330T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.461T>G
ENST00000648053.1:n.271T>G
ENST00000648319.1:c.839T>G MANE Select	ENSP00000496939.1:p.Leu280Arg
ENST00000262888.7:c.839T>G	ENSP00000262888.3:p.Leu280Arg
ENST00000598836.1:c.18T>G
ENST00000599720.5:c.*109T>G	ENSP00000472513.1:n.*109T>G
ENST00000600408.1:c.128T>G	ENSP00000472510.1:p.Leu43Arg
ENST00000601549.1:n.148T>G
ENST00000615047.4:c.443T>G	ENSP00000485014.1:p.Leu148Arg
NM_002250.2:c.839T>G	NP_002241.1:p.Leu280Arg
XM_005258882.2:c.743T>G	XP_005258939.1:p.Leu248Arg
XM_005258883.2:c.650T>G	XP_005258940.1:p.Leu217Arg
XR_935823.1:n.2085T>G
XR_002958313.1:n.2231T>G
NM_002250.3:c.839T>G MANE Select	NP_002241.1:p.Leu280Arg