Canonical Allele Identifier: CA7657257

Gene: SEMA7A

Linked Data

• ClinVar Variation Id: 1687038
• ClinVar RCV Id: RCV002248475
• dbSNP Id: rs200895370
• ExAC: 15:74710241 G / A
• gnomAD v2: 15-74710241-G-A
• gnomAD v3: 15-74417900-G-A
• gnomAD v4: 15-74417900-G-A
• MyVariant Identifiers: chr15:g.74710241G>A (hg19) ; chr15:g.74417900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74417900G>A , CM000677.2:g.74417900G>A	GRCh38
NC_000015.9:g.74710241G>A , CM000677.1:g.74710241G>A	GRCh37
NC_000015.8:g.72497294G>A	NCBI36
NG_011733.1:g.21059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261918.9:c.442C>T MANE Select	ENSP00000261918.4:p.Arg148Trp
ENST00000542748.6:c.-54C>T	ENSP00000441493.1:n.-54C>T
ENST00000261918.8:c.442C>T	ENSP00000261918.4:p.Arg148Trp
ENST00000542748.5:c.-54C>T	ENSP00000441493.1:n.-54C>T
ENST00000543145.6:c.400C>T	ENSP00000438966.2:p.Arg134Trp
ENST00000567345.1:c.-54C>T	ENSP00000454365.1:n.-54C>T
NM_001146029.1:c.400C>T	NP_001139501.1:p.Arg134Trp
NM_001146030.1:c.-54C>T	NP_001139502.1:n.-54C>T
NM_003612.3:c.442C>T	NP_003603.1:p.Arg148Trp
NM_001146029.2:c.400C>T	NP_001139501.1:p.Arg134Trp
NM_001146030.2:c.-54C>T	NP_001139502.1:n.-54C>T
NM_003612.4:c.442C>T	NP_003603.1:p.Arg148Trp
NM_003612.5:c.442C>T MANE Select	NP_003603.1:p.Arg148Trp
NM_001146029.3:c.400C>T	NP_001139501.1:p.Arg134Trp
NM_001146030.3:c.-54C>T	NP_001139502.1:n.-54C>T