Canonical Allele Identifier: CA388787171

Gene: F7

Linked Data

• ClinVar Variation Id: 1098449
• ClinVar RCV Id: RCV001420381
• dbSNP Id: rs1490539322
• gnomAD v4: 13-113118965-C-T
• MyVariant Identifiers: chr13:g.113773279C>T (hg19) ; chr13:g.113118965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118965C>T , CM000675.2:g.113118965C>T	GRCh38
NC_000013.10:g.113773279C>T , CM000675.1:g.113773279C>T	GRCh37
NC_000013.9:g.112821280C>T	NCBI36
NG_009258.1:g.1167C>T , LRG_548:g.1167C>T
NG_009262.1:g.18175C>T , LRG_554:g.18175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1292C>T MANE Select	ENSP00000329546.4:p.Ser431Leu
ENST00000346342.7:c.1292C>T	ENSP00000329546.3:p.Ser431Leu
ENST00000375581.3:c.1358C>T	ENSP00000364731.3:p.Ser453Leu
ENST00000541084.5:c.1106C>T	ENSP00000442051.2:p.Ser369Leu
NM_000131.4:c.1358C>T , LRG_554t1:c.1358C>T	NP_000122.1:p.Ser453Leu
NM_001267554.1:c.1106C>T	NP_001254483.1:p.Ser369Leu
NM_019616.3:c.1292C>T , LRG_554t2:c.1292C>T	NP_062562.1:p.Ser431Leu
NR_051961.1:n.1379C>T
XM_006719963.2:c.1151C>T	XP_006720026.1:p.Ser384Leu
XM_011537474.1:c.1400C>T	XP_011535776.1:p.Ser467Leu
XM_011537475.1:c.1214C>T	XP_011535777.1:p.Ser405Leu
XM_011537476.1:c.1052C>T	XP_011535778.1:p.Ser351Leu
XM_011537477.1:c.1361C>T	XP_011535779.1:p.Ser454Leu
XM_006719963.3:c.1196C>T	XP_006720026.2:p.Ser399Leu
XM_011537474.2:c.1445C>T	XP_011535776.2:p.Ser482Leu
XM_011537475.2:c.1259C>T	XP_011535777.2:p.Ser420Leu
XM_011537476.2:c.1052C>T	XP_011535778.1:p.Ser351Leu
NM_019616.4:c.1292C>T MANE Select	NP_062562.1:p.Ser431Leu
NR_051961.2:n.1376C>T
NM_001267554.2:c.1106C>T	NP_001254483.1:p.Ser369Leu