Allele Registry

Canonical Allele Identifier: CA10699283

Gene: IL10 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.206768519A>G

GRCh37 chr1:g.206941864A>G

Linked Data - Sequence & Population

gnomAD v2:

1:206941864 A / G

gnomAD v3:

1:206768519 A / G

gnomAD v4:

chr1-206768519-A-G

Joint Max Group AF 0.47885773 (NFE)

Genomes Max Group AF 0.48088186 (NFE)

Exomes Max Group AF 0.47767135 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV003397084

ClinVar Variation:

2628225

dbSNP:

3024496

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.206768519A>G , CM000663.2:g.206768519A>G	GRCh38
NC_000001.10:g.206941864A>G , CM000663.1:g.206941864A>G	GRCh37
NC_000001.9:g.205008487A>G	NCBI36
NG_012088.1:g.8976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367099.4:n.1659T>C
ENST00000471071.2:c.*117T>C	ENSP00000493073.2:n.*117T>C
ENST00000640756.2:n.464T>C
ENST00000659065.2:c.*117T>C	ENSP00000499588.1:n.*117T>C
ENST00000659642.2:c.*117T>C	ENSP00000499509.1:n.*117T>C
ENST00000664374.2:c.*117T>C	ENSP00000499664.1:n.*117T>C
ENST00000640756.1:n.453T>C
ENST00000659065.1:c.*117T>C	ENSP00000499588.1:n.*117T>C
ENST00000659642.1:c.*117T>C	ENSP00000499509.1:n.*117T>C
ENST00000664374.1:c.*117T>C	ENSP00000499664.1:n.*117T>C
ENST00000423557.1:c.*117T>C MANE Select	ENSP00000412237.1:n.*117T>C
NM_000572.2:c.*117T>C	NP_000563.1:n.*117T>C
XM_011509506.1:c.*117T>C	XP_011507808.1:n.*117T>C
NM_000572.3:c.*117T>C MANE Select	NP_000563.1:n.*117T>C
NM_001382624.1:c.*117T>C	NP_001369553.1:n.*117T>C
NR_168466.1:n.951T>C
NR_168467.1:n.481T>C

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