Canonical Allele Identifier: CA10640701
Gene: IGF1 HGNC NCBI
LINC02456 HGNC NCBI
gnomAD v2:
12:102793569 C / T
gnomAD v3:
12:102399791 C / T
gnomAD v4:
chr12-102399791-C-T
Joint Max Group AF 0.53578542 (AFR)
Genomes Max Group AF 0.53578542 (AFR)
ClinVar RCV:
RCV000307677
ClinVar Variation:
306880
dbSNP:
6214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102399791C>T , CM000674.2:g.102399791C>T GRCh38
NC_000012.11:g.102793569C>T , CM000674.1:g.102793569C>T GRCh37
NC_000012.10:g.101317699C>T NCBI36
NG_011713.1:g.85810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337514.11:c.*2716G>A (IGF1) MANE Select ENSP00000337612.7:n.*2716G>A
ENST00000337514.10:c.*2716G>A (IGF1) ENSP00000337612.6:n.*2716G>A
ENST00000456098.5:c.*2750G>A (IGF1) ENSP00000394999.1:n.*2750G>A
NM_000618.3:c.*2716G>A (IGF1) NP_000609.1:n.*2716G>A
NM_000618.4:c.*2716G>A (IGF1) NP_000609.1:n.*2716G>A
NM_001111283.1:c.*2750G>A (IGF1) NP_001104753.1:n.*2750G>A
NM_001111283.2:c.*2750G>A (IGF1) NP_001104753.1:n.*2750G>A
NM_001111284.1:c.*2716G>A (IGF1) NP_001104754.1:n.*2716G>A
XR_944534.1:n.5737G>A (IGF1)
XR_944535.1:n.5514G>A (IGF1)
XR_944536.1:n.5499G>A (IGF1)
XR_945270.1:n.582-4322C>T (LINC02456)
XR_945271.1:n.582-4322C>T (LINC02456)
XR_945272.1:n.582-4322C>T (LINC02456)
XR_945273.1:n.532-4322C>T (LINC02456)
XR_945274.1:n.258-4322C>T (LINC02456)
XR_945275.1:n.138-4322C>T (LINC02456)
XR_945276.1:n.110-4322C>T (LINC02456)
XR_945277.1:n.582-4322C>T (LINC02456)
XM_017019262.2:c.*2750G>A (IGF1) XP_016874751.1:n.*2750G>A
XM_017019263.2:c.*2716G>A (IGF1) XP_016874752.1:n.*2716G>A
XR_001749285.1:n.697-4322C>T (LINC02456)
XR_001749286.1:n.258-4322C>T (LINC02456)
XR_001749287.1:n.576-4322C>T (LINC02456)
XR_001749288.1:n.1585-4322C>T (LINC02456)
NM_000618.5:c.*2716G>A (IGF1) MANE Select NP_000609.1:n.*2716G>A
NM_001111283.3:c.*2750G>A (IGF1) NP_001104753.1:n.*2750G>A
NM_001111284.2:c.*2716G>A (IGF1) NP_001104754.1:n.*2716G>A
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