Canonical Allele Identifier: CA232779824

Gene: CLEC7A

Linked Data

• dbSNP Id: rs11053612
• gnomAD v2: 12-10276818-C-T
• gnomAD v3: 12-10124219-C-T
• gnomAD v4: 12-10124219-C-T
• MyVariant Identifiers: chr12:g.10276818C>T (hg19) ; chr12:g.10124219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10124219C>T , CM000674.2:g.10124219C>T	GRCh38
NC_000012.11:g.10276818C>T , CM000674.1:g.10276818C>T	GRCh37
NC_000012.10:g.10168085C>T	NCBI36
NG_016291.1:g.11051G>A , LRG_179:g.11051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304084.13:c.493-856G>A MANE Select	ENSP00000302569.8:n.493-856G>A
ENST00000298523.9:c.354+1078G>A	ENSP00000298523.5:n.354+1078G>A
ENST00000304084.12:c.493-856G>A	ENSP00000302569.8:n.493-856G>A
ENST00000349926.9:c.104-856G>A	ENSP00000344723.5:n.104-856G>A
ENST00000353231.9:c.355-856G>A	ENSP00000266456.6:n.355-856G>A
ENST00000396484.6:c.256-856G>A	ENSP00000379743.2:n.256-856G>A
ENST00000465100.5:c.630-856G>A	ENSP00000436923.1:n.630-856G>A
ENST00000529761.5:c.493-856G>A	ENSP00000432876.1:n.493-856G>A
ENST00000531192.5:c.*1-856G>A	ENSP00000434392.1:n.*1-856G>A
ENST00000533022.5:c.492+1078G>A	ENSP00000431461.1:n.492+1078G>A
ENST00000534609.5:n.1793-856G>A
NM_022570.4:c.355-856G>A	NP_072092.2:n.355-856G>A
NM_197947.2:c.493-856G>A , LRG_179t1:c.493-856G>A	NP_922938.1:n.493-856G>A
NM_197948.2:c.492+1078G>A	NP_922939.1:n.492+1078G>A
NM_197949.2:c.354+1078G>A	NP_922940.1:n.354+1078G>A
NM_197950.2:c.256-856G>A	NP_922941.1:n.256-856G>A
NR_125336.1:n.767-856G>A
XM_005253467.3:c.493-856G>A	XP_005253524.1:n.493-856G>A
XM_006719135.2:c.579+868G>A	XP_006719198.1:n.579+868G>A
XR_931351.1:n.159-6862C>T
XR_931352.1:n.159-6862C>T
XM_006719135.3:c.579+868G>A	XP_006719198.1:n.579+868G>A
XM_017019822.1:c.575+872G>A	XP_016875311.1:n.575+872G>A
XM_017019823.1:c.437+872G>A	XP_016875312.1:n.437+872G>A
XM_024449132.1:c.576-856G>A	XP_024304900.1:n.576-856G>A
XM_024449133.1:c.*1-856G>A	XP_024304901.1:n.*1-856G>A
XR_931351.2:n.160-6862C>T
XR_931352.2:n.160-6862C>T
NM_022570.5:c.355-856G>A	NP_072092.2:n.355-856G>A
NM_197947.3:c.493-856G>A MANE Select	NP_922938.1:n.493-856G>A
NM_197948.3:c.492+1078G>A	NP_922939.1:n.492+1078G>A
NM_197949.3:c.354+1078G>A	NP_922940.1:n.354+1078G>A
NM_197950.3:c.256-856G>A	NP_922941.1:n.256-856G>A
NR_125336.2:n.697-856G>A