Canonical Allele Identifier: CA97647920
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs534764141
gnomAD v2: 4-57913309-C-T
gnomAD v3: 4-57047143-C-T
gnomAD v4: 4-57047143-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57047143C>T , CM000666.2:g.57047143C>T GRCh38
NC_000004.11:g.57913309C>T , CM000666.1:g.57913309C>T GRCh37
NC_000004.10:g.57608066C>T NCBI36
NG_031877.1:g.68243G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295666.6:c.476-6210G>A MANE Select ENSP00000295666.4:n.476-6210G>A
ENST00000512512.3:n.116-6210G>A
ENST00000514062.2:c.476-6210G>A ENSP00000486293.1:n.476-6210G>A
NM_001253835.1:c.476-6210G>A NP_001240764.1:n.476-6210G>A
NM_001553.2:c.476-6210G>A NP_001544.1:n.476-6210G>A
NM_001553.3:c.476-6210G>A MANE Select NP_001544.1:n.476-6210G>A
NM_001253835.2:c.476-6210G>A NP_001240764.1:n.476-6210G>A