Canonical Allele Identifier: CA393148140

Gene: SEMA7A

Linked Data

• dbSNP Id: rs1376365946
• gnomAD v2: 15-74710295-T-C
• gnomAD v4: 15-74417954-T-C
• COSMIC: COSM3944239
• MyVariant Identifiers: chr15:g.74710295T>C (hg19) ; chr15:g.74417954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74417954T>C , CM000677.2:g.74417954T>C	GRCh38
NC_000015.9:g.74710295T>C , CM000677.1:g.74710295T>C	GRCh37
NC_000015.8:g.72497348T>C	NCBI36
NG_011733.1:g.21005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261918.9:c.388A>G MANE Select	ENSP00000261918.4:p.Ile130Val
ENST00000542748.6:c.-108A>G	ENSP00000441493.1:n.-108A>G
ENST00000261918.8:c.388A>G	ENSP00000261918.4:p.Ile130Val
ENST00000542748.5:c.-108A>G	ENSP00000441493.1:n.-108A>G
ENST00000543145.6:c.346A>G	ENSP00000438966.2:p.Ile116Val
ENST00000567345.1:c.-108A>G	ENSP00000454365.1:n.-108A>G
NM_001146029.1:c.346A>G	NP_001139501.1:p.Ile116Val
NM_001146030.1:c.-108A>G	NP_001139502.1:n.-108A>G
NM_003612.3:c.388A>G	NP_003603.1:p.Ile130Val
NM_001146029.2:c.346A>G	NP_001139501.1:p.Ile116Val
NM_001146030.2:c.-108A>G	NP_001139502.1:n.-108A>G
NM_003612.4:c.388A>G	NP_003603.1:p.Ile130Val
NM_003612.5:c.388A>G MANE Select	NP_003603.1:p.Ile130Val
NM_001146029.3:c.346A>G	NP_001139501.1:p.Ile116Val
NM_001146030.3:c.-108A>G	NP_001139502.1:n.-108A>G