Canonical Allele Identifier: CA161171255

Gene: SEMA3E

Linked Data

• dbSNP Id: rs889890773
• gnomAD v4: 7-83407216-T-C
• MyVariant Identifiers: chr7:g.83036532T>C (hg19) ; chr7:g.83407216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407216T>C , CM000669.2:g.83407216T>C	GRCh38
NC_000007.13:g.83036532T>C , CM000669.1:g.83036532T>C	GRCh37
NC_000007.12:g.82874468T>C	NCBI36
NG_021242.1:g.246948A>G
NG_021242.2:g.246948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.514A>G	ENSP00000405052.1:p.Met172Val
ENST00000642232.1:c.694A>G	ENSP00000494064.1:p.Met232Val
ENST00000643230.2:c.694A>G MANE Select	ENSP00000496491.1:p.Met232Val
ENST00000643441.1:n.679A>G
ENST00000644381.1:n.257A>G
ENST00000307792.7:c.694A>G	ENSP00000303212.3:p.Met232Val
ENST00000427262.5:c.514A>G	ENSP00000405052.1:p.Met172Val
NM_001178129.1:c.514A>G	NP_001171600.1:p.Met172Val
NM_012431.2:c.694A>G	NP_036563.1:p.Met232Val
XM_011516715.1:c.694A>G	XP_011515017.1:p.Met232Val
NM_012431.3:c.694A>G MANE Select	NP_036563.1:p.Met232Val
NM_001178129.2:c.514A>G	NP_001171600.1:p.Met172Val