Canonical Allele Identifier: CA551778561
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs1269979287
gnomAD v2: 4-57913134-C-T
gnomAD v3: 4-57046968-C-T
gnomAD v4: 4-57046968-C-T
MyVariant Identifiers: chr4:g.57913134C>T (hg19) chr4:g.57046968C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57046968C>T , CM000666.2:g.57046968C>T GRCh38
NC_000004.11:g.57913134C>T , CM000666.1:g.57913134C>T GRCh37
NC_000004.10:g.57607891C>T NCBI36
NG_031877.1:g.68418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295666.6:c.476-6035G>A MANE Select ENSP00000295666.4:n.476-6035G>A
ENST00000512512.3:n.116-6035G>A
ENST00000514062.2:c.476-6035G>A ENSP00000486293.1:n.476-6035G>A
NM_001253835.1:c.476-6035G>A NP_001240764.1:n.476-6035G>A
NM_001553.2:c.476-6035G>A NP_001544.1:n.476-6035G>A
NM_001553.3:c.476-6035G>A MANE Select NP_001544.1:n.476-6035G>A
NM_001253835.2:c.476-6035G>A NP_001240764.1:n.476-6035G>A
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