Canonical Allele Identifier: CA8955689
Gene: IER3IP1 HGNC NCBI
ClinVar RCV:
RCV000649652
ClinVar Variation:
539835
dbSNP:
200201845
gnomAD v2:
18:44682582 G / A
gnomAD v3:
18:47156211 G / A
gnomAD v4:
chr18-47156211-G-A
Joint Max Group AF 0.00002921 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00002841 (NFE)
MyVariant.info:
GRCh38 chr18:g.47156211G>A
GRCh37 chr18:g.44682582G>A
Revel Score:
ENST00000256433 (MANE Select) 0.372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.47156211G>A , CM000680.2:g.47156211G>A GRCh38
NC_000018.9:g.44682582G>A , CM000680.1:g.44682582G>A GRCh37
NC_000018.8:g.42936580G>A NCBI36
NG_031925.1:g.25164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256433.6:c.215C>T MANE Select ENSP00000256433.3:p.Ser72Leu
ENST00000602459.6:c.92-19762C>T ENSP00000473358.1:n.92-19762C>T
ENST00000256433.4:c.215C>T ENSP00000256433.3:p.Ser72Leu
ENST00000588705.1:c.215C>T ENSP00000465194.1:p.Ser72Leu
ENST00000602459.5:c.92-19762C>T ENSP00000473358.1:n.92-19762C>T
ENST00000602926.5:c.92-19762C>T ENSP00000473502.1:n.92-19762C>T
NM_016097.4:c.215C>T NP_057181.1:p.Ser72Leu
NM_016097.5:c.215C>T MANE Select NP_057181.1:p.Ser72Leu
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