Canonical Allele Identifier: CA5074155

Gene: ENTREP1

Linked Data

• ClinVar Variation Id: 508095
• ClinVar RCV Id: RCV000599916
• dbSNP Id: rs4351475
• ExAC: 9:71990645 C / T
• gnomAD v2: 9-71990645-C-T
• gnomAD v3: 9-69375729-C-T
• gnomAD v4: 9-69375729-C-T
• MyVariant Identifiers: chr9:g.71990645C>T (hg19) ; chr9:g.69375729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69375729C>T , CM000671.2:g.69375729C>T	GRCh38
NC_000009.11:g.71990645C>T , CM000671.1:g.71990645C>T	GRCh37
NC_000009.10:g.71180465C>T	NCBI36
NG_052888.1:g.56158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303068.14:c.583-7C>T MANE Select	ENSP00000304435.8:n.583-7C>T
ENST00000303068.13:c.583-7C>T	ENSP00000304435.8:n.583-7C>T
ENST00000377216.4:c.124-7C>T	ENSP00000366422.4:n.124-7C>T
ENST00000455972.6:c.124-7C>T	ENSP00000395675.1:n.124-7C>T
ENST00000643727.1:n.171-7C>T
ENST00000257515.12:c.124-7C>T	ENSP00000257515.8:n.124-7C>T
ENST00000303068.11:c.-372-7C>T	ENSP00000304435.7:n.-372-7C>T
ENST00000455972.5:c.124-7C>T	ENSP00000395675.1:n.124-7C>T
NM_001127608.1:c.124-7C>T	NP_001121080.1:n.124-7C>T
NM_004816.3:c.124-7C>T	NP_004807.3:n.124-7C>T
XM_005252307.3:c.583-7C>T	XP_005252364.1:n.583-7C>T
NM_001127608.2:c.124-7C>T	NP_001121080.1:n.124-7C>T
NM_001347995.1:c.583-7C>T	NP_001334924.1:n.583-7C>T
NM_004816.4:c.124-7C>T	NP_004807.3:n.124-7C>T
XM_017015324.1:c.196-7C>T	XP_016870813.1:n.196-7C>T
XM_017015325.1:c.124-7C>T	XP_016870814.1:n.124-7C>T
XM_024447718.1:c.124-7C>T	XP_024303486.1:n.124-7C>T
XR_001746421.1:n.228-7C>T
NM_001127608.3:c.124-7C>T	NP_001121080.1:n.124-7C>T
NM_001347995.2:c.583-7C>T MANE Select	NP_001334924.1:n.583-7C>T
NM_004816.5:c.124-7C>T	NP_004807.3:n.124-7C>T
NR_170669.1:n.219-7C>T