Canonical Allele Identifier: CA11751699
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs10049992
gnomAD v2: 4-57939863-T-G
gnomAD v3: 4-57073697-T-G
gnomAD v4: 4-57073697-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57073697T>G , CM000666.2:g.57073697T>G GRCh38
NC_000004.11:g.57939863T>G , CM000666.1:g.57939863T>G GRCh37
NC_000004.10:g.57634620T>G NCBI36
NG_031877.1:g.41689A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295666.6:c.476-32764A>C MANE Select ENSP00000295666.4:n.476-32764A>C
ENST00000514062.2:c.476-32764A>C ENSP00000486293.1:n.476-32764A>C
NM_001253835.1:c.476-32764A>C NP_001240764.1:n.476-32764A>C
NM_001553.2:c.476-32764A>C NP_001544.1:n.476-32764A>C
NM_001553.3:c.476-32764A>C MANE Select NP_001544.1:n.476-32764A>C
NM_001253835.2:c.476-32764A>C NP_001240764.1:n.476-32764A>C