Canonical Allele Identifier: CA633277321

Gene: KCNN4

Linked Data

• dbSNP Id: rs1278307339
• gnomAD v2: 19-44280605-CAGG-C
• gnomAD v4: 19-43776453-CAGG-C
• MyVariant Identifiers: chr19:g.44280606_44280608del (hg19) ; chr19:g.43776454_43776456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776466_43776468del , CM000681.2:g.43776466_43776468del	GRCh38
NC_000019.9:g.44280618_44280620del , CM000681.1:g.44280618_44280620del	GRCh37
NC_000019.8:g.48972458_48972460del	NCBI36
NG_052672.1:g.10684_10686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+85_255+87del MANE Select	ENSP00000496939.1:n.255+85_255+87del
ENST00000262888.7:c.255+85_255+87del	ENSP00000262888.3:n.255+85_255+87del
ENST00000599107.1:n.286+85_286+87del
ENST00000599720.5:c.159+4247_159+4249del	ENSP00000472513.1:n.159+4247_159+4249del
ENST00000615047.4:c.70+85_70+87del	ENSP00000485014.1:n.70+85_70+87del
NM_002250.2:c.255+85_255+87del	NP_002241.1:n.255+85_255+87del
XM_005258882.2:c.160-1837_160-1835del	XP_005258939.1:n.160-1837_160-1835del
XM_005258883.2:c.70+85_70+87del	XP_005258940.1:n.70+85_70+87del
XM_011526938.1:c.255+85_255+87del	XP_011525240.1:n.255+85_255+87del
XR_935823.1:n.1533+85_1533+87del
XR_002958313.1:n.1533+85_1533+87del
NM_002250.3:c.255+85_255+87del MANE Select	NP_002241.1:n.255+85_255+87del