Canonical Allele Identifier: CA8955689

Gene: IER3IP1

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)

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