Canonical Allele Identifier: CA1062837929
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs1725119624
gnomAD v3: 4-57073645-C-T
gnomAD v4: 4-57073645-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57073645C>T , CM000666.2:g.57073645C>T GRCh38
NC_000004.11:g.57939811C>T , CM000666.1:g.57939811C>T GRCh37
NC_000004.10:g.57634568C>T NCBI36
NG_031877.1:g.41741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295666.6:c.476-32712G>A MANE Select ENSP00000295666.4:n.476-32712G>A
ENST00000514062.2:c.476-32712G>A ENSP00000486293.1:n.476-32712G>A
NM_001253835.1:c.476-32712G>A NP_001240764.1:n.476-32712G>A
NM_001553.2:c.476-32712G>A NP_001544.1:n.476-32712G>A
NM_001553.3:c.476-32712G>A MANE Select NP_001544.1:n.476-32712G>A
NM_001253835.2:c.476-32712G>A NP_001240764.1:n.476-32712G>A