Canonical Allele Identifier: CA308795032

Gene: KCNN4

Linked Data

• dbSNP Id: rs561399285
• gnomAD v3: 19-43776199-T-C
• gnomAD v4: 19-43776199-T-C
• MyVariant Identifiers: chr19:g.44280351T>C (hg19) ; chr19:g.43776199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776199T>C , CM000681.2:g.43776199T>C	GRCh38
NC_000019.9:g.44280351T>C , CM000681.1:g.44280351T>C	GRCh37
NC_000019.8:g.48972191T>C	NCBI36
NG_052672.1:g.10941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+342A>G MANE Select	ENSP00000496939.1:n.255+342A>G
ENST00000262888.7:c.255+342A>G	ENSP00000262888.3:n.255+342A>G
ENST00000599107.1:n.286+342A>G
ENST00000599720.5:c.160-4096A>G	ENSP00000472513.1:n.160-4096A>G
ENST00000615047.4:c.70+342A>G	ENSP00000485014.1:n.70+342A>G
NM_002250.2:c.255+342A>G	NP_002241.1:n.255+342A>G
XM_005258882.2:c.160-1580A>G	XP_005258939.1:n.160-1580A>G
XM_005258883.2:c.70+342A>G	XP_005258940.1:n.70+342A>G
XM_011526938.1:c.255+342A>G	XP_011525240.1:n.255+342A>G
XR_935823.1:n.1533+342A>G
XR_002958313.1:n.1533+342A>G
NM_002250.3:c.255+342A>G MANE Select	NP_002241.1:n.255+342A>G