Canonical Allele Identifier: CA97647813
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs531988409
gnomAD v3: 4-57046977-A-G
gnomAD v4: 4-57046977-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57046977A>G , CM000666.2:g.57046977A>G GRCh38
NC_000004.11:g.57913143A>G , CM000666.1:g.57913143A>G GRCh37
NC_000004.10:g.57607900A>G NCBI36
NG_031877.1:g.68409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295666.6:c.476-6044T>C MANE Select ENSP00000295666.4:n.476-6044T>C
ENST00000512512.3:n.116-6044T>C
ENST00000514062.2:c.476-6044T>C ENSP00000486293.1:n.476-6044T>C
NM_001253835.1:c.476-6044T>C NP_001240764.1:n.476-6044T>C
NM_001553.2:c.476-6044T>C NP_001544.1:n.476-6044T>C
NM_001553.3:c.476-6044T>C MANE Select NP_001544.1:n.476-6044T>C
NM_001253835.2:c.476-6044T>C NP_001240764.1:n.476-6044T>C