Canonical Allele Identifier: CA456135657

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1123525
• ClinVar RCV Id: RCV001454566
• dbSNP Id: rs1475070881
• gnomAD v2: 7-83036428-G-A
• gnomAD v3: 7-83407112-G-A
• gnomAD v4: 7-83407112-G-A
• MyVariant Identifiers: chr7:g.83036428G>A (hg19) ; chr7:g.83407112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407112G>A , CM000669.2:g.83407112G>A	GRCh38
NC_000007.13:g.83036428G>A , CM000669.1:g.83036428G>A	GRCh37
NC_000007.12:g.82874364G>A	NCBI36
NG_021242.1:g.247052C>T
NG_021242.2:g.247052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.618C>T	ENSP00000405052.1:p.Val206=
ENST00000642232.1:c.798C>T	ENSP00000494064.1:p.Val266=
ENST00000643230.2:c.798C>T MANE Select	ENSP00000496491.1:p.Val266=
ENST00000643441.1:n.783C>T
ENST00000307792.7:c.798C>T	ENSP00000303212.3:p.Val266=
ENST00000427262.5:c.618C>T	ENSP00000405052.1:p.Val206=
NM_001178129.1:c.618C>T	NP_001171600.1:p.Val206=
NM_012431.2:c.798C>T	NP_036563.1:p.Val266=
XM_011516715.1:c.798C>T	XP_011515017.1:p.Val266=
NM_012431.3:c.798C>T MANE Select	NP_036563.1:p.Val266=
NM_001178129.2:c.618C>T	NP_001171600.1:p.Val206=