Canonical Allele Identifier: CA352902099

Gene: SEMA3F

Linked Data

• ClinVar Variation Id: 982049
• ClinVar RCV Id: RCV001374679
• dbSNP Id: rs2109128819
• MyVariant Identifiers: chr3:g.50225144G>T (hg19) ; chr3:g.50187711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50187711G>T , CM000665.2:g.50187711G>T	GRCh38
NC_000003.11:g.50225144G>T , CM000665.1:g.50225144G>T	GRCh37
NC_000003.10:g.50200148G>T	NCBI36
NG_009831.1:g.1102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000002829.8:c.1954G>T MANE Select	ENSP00000002829.3:p.Ala652Ser
ENST00000002829.7:c.1954G>T	ENSP00000002829.3:p.Ala652Ser
ENST00000413852.5:c.1657G>T	ENSP00000388931.1:p.Ala553Ser
ENST00000434342.5:c.1861G>T	ENSP00000409859.1:p.Ala621Ser
NM_004186.3:c.1954G>T	NP_004177.3:p.Ala652Ser
XM_005265381.3:c.1954G>T	XP_005265438.1:p.Ala652Ser
XM_005265382.3:c.1861G>T	XP_005265439.1:p.Ala621Ser
XM_006713289.2:c.1363G>T	XP_006713352.1:p.Ala455Ser
XM_011533998.1:c.1954G>T	XP_011532300.1:p.Ala652Ser
XM_011533999.1:c.1861G>T	XP_011532301.1:p.Ala621Ser
XR_940487.1:n.2132G>T
NM_001318798.1:c.1657G>T	NP_001305727.1:p.Ala553Ser
NM_001318800.1:c.1861G>T	NP_001305729.1:p.Ala621Ser
NM_004186.4:c.1954G>T	NP_004177.3:p.Ala652Ser
XM_005265381.4:c.1954G>T	XP_005265438.1:p.Ala652Ser
XM_005265382.4:c.1861G>T	XP_005265439.1:p.Ala621Ser
XM_006713289.3:c.1363G>T	XP_006713352.1:p.Ala455Ser
XM_011533998.2:c.1954G>T	XP_011532300.1:p.Ala652Ser
XR_940487.2:n.2070G>T
NM_004186.5:c.1954G>T MANE Select	NP_004177.3:p.Ala652Ser
NM_001318798.2:c.1657G>T	NP_001305727.1:p.Ala553Ser
NM_001318800.2:c.1861G>T	NP_001305729.1:p.Ala621Ser