Canonical Allele Identifier: CA8955689
Gene: IER3IP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539835
ClinVar RCV Id: RCV000649652
dbSNP Id: rs200201845
ExAC: 18:44682582 G / A
gnomAD v2: 18-44682582-G-A
gnomAD v3: 18-47156211-G-A
gnomAD v4: 18-47156211-G-A
MyVariant Identifiers: chr18:g.44682582G>A (hg19) chr18:g.47156211G>A (hg38)
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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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