Canonical Allele Identifier: CA119004

Gene: HESX1

Linked Data

• ClinVar Variation Id: 7698
• ClinVar RCV Id: RCV000008137
• dbSNP Id: rs575112817
• ExAC: 3:57232779 A / G
• gnomAD v2: 3-57232779-A-G
• gnomAD v3: 3-57198751-A-G
• gnomAD v4: 3-57198751-A-G
• MyVariant Identifiers: chr3:g.57232779A>G (hg19) ; chr3:g.57198751A>G (hg38)
• PubMed: PMID:16940453

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57198751A>G , CM000665.2:g.57198751A>G	GRCh38
NC_000003.11:g.57232779A>G , CM000665.1:g.57232779A>G	GRCh37
NC_000003.10:g.57207819A>G	NCBI36
NG_008242.1:g.6502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295934.8:c.357+2T>C MANE Select	ENSP00000295934.3:n.357+2T>C
ENST00000647958.1:c.357+2T>C	ENSP00000498190.1:n.357+2T>C
ENST00000295934.7:c.357+2T>C	ENSP00000295934.3:n.357+2T>C
ENST00000473921.2:c.357+2T>C	ENSP00000418918.1:n.357+2T>C
NM_003865.2:c.357+2T>C	NP_003856.1:n.357+2T>C
XM_005265526.3:c.357+2T>C	XP_005265583.1:n.357+2T>C
XM_006713379.2:c.357+2T>C	XP_006713442.1:n.357+2T>C
XM_011534204.1:c.357+2T>C	XP_011532506.1:n.357+2T>C
XM_011534205.1:c.357+2T>C	XP_011532507.1:n.357+2T>C
XM_005265526.4:c.357+2T>C	XP_005265583.1:n.357+2T>C
XM_011534204.2:c.357+2T>C	XP_011532506.1:n.357+2T>C
XM_011534205.2:c.357+2T>C	XP_011532507.1:n.357+2T>C
XM_017007421.1:c.357+2T>C	XP_016862910.1:n.357+2T>C
XM_024453809.1:c.357+2T>C	XP_024309577.1:n.357+2T>C
NM_003865.3:c.357+2T>C MANE Select	NP_003856.1:n.357+2T>C
NM_001376058.1:c.357+2T>C	NP_001362987.1:n.357+2T>C
NM_001376059.1:c.357+2T>C	NP_001362988.1:n.357+2T>C
NM_001376060.1:c.357+2T>C	NP_001362989.1:n.357+2T>C
NM_001376061.1:c.357+2T>C	NP_001362990.1:n.357+2T>C
NR_164757.1:n.851-259T>C