Canonical Allele Identifier: CA882569770

Gene: KCNN4

Linked Data

• dbSNP Id: rs59704354
• gnomAD v3: 19-43776127-CAAAAAAAAAAAAAAAA-C
• gnomAD v4: 19-43776127-CAAAAAAAAAAAAAAAA-C
• MyVariant Identifiers: chr19:g.44280280_44280295del (hg19) ; chr19:g.43776128_43776143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776141_43776156del , CM000681.2:g.43776141_43776156del	GRCh38
NC_000019.9:g.44280293_44280308del , CM000681.1:g.44280293_44280308del	GRCh37
NC_000019.8:g.48972133_48972148del	NCBI36
NG_052672.1:g.10997_11012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+398_255+413del MANE Select	ENSP00000496939.1:n.255+398_255+413del
ENST00000262888.7:c.255+398_255+413del	ENSP00000262888.3:n.255+398_255+413del
ENST00000599107.1:n.286+398_286+413del
ENST00000599720.5:c.160-4040_160-4025del	ENSP00000472513.1:n.160-4040_160-4025del
ENST00000615047.4:c.70+398_70+413del	ENSP00000485014.1:n.70+398_70+413del
NM_002250.2:c.255+398_255+413del	NP_002241.1:n.255+398_255+413del
XM_005258882.2:c.160-1524_160-1509del	XP_005258939.1:n.160-1524_160-1509del
XM_005258883.2:c.70+398_70+413del	XP_005258940.1:n.70+398_70+413del
XM_011526938.1:c.255+398_255+413del	XP_011525240.1:n.255+398_255+413del
XR_935823.1:n.1533+398_1533+413del
XR_002958313.1:n.1533+398_1533+413del
NM_002250.3:c.255+398_255+413del MANE Select	NP_002241.1:n.255+398_255+413del