Canonical Allele Identifier: CA388787228

Gene: F7

Linked Data

• dbSNP Id: rs751290450
• gnomAD v3: 13-113119000-T-C
• gnomAD v4: 13-113119000-T-C
• MyVariant Identifiers: chr13:g.113773314T>C (hg19) ; chr13:g.113119000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119000T>C , CM000675.2:g.113119000T>C	GRCh38
NC_000013.10:g.113773314T>C , CM000675.1:g.113773314T>C	GRCh37
NC_000013.9:g.112821315T>C	NCBI36
NG_009258.1:g.1202T>C , LRG_548:g.1202T>C
NG_009262.1:g.18210T>C , LRG_554:g.18210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1327T>C MANE Select	ENSP00000329546.4:p.Phe443Leu
ENST00000346342.7:c.1327T>C	ENSP00000329546.3:p.Phe443Leu
ENST00000375581.3:c.1393T>C	ENSP00000364731.3:p.Phe465Leu
ENST00000541084.5:c.1141T>C	ENSP00000442051.2:p.Phe381Leu
NM_000131.4:c.1393T>C , LRG_554t1:c.1393T>C	NP_000122.1:p.Phe465Leu
NM_001267554.1:c.1141T>C	NP_001254483.1:p.Phe381Leu
NM_019616.3:c.1327T>C , LRG_554t2:c.1327T>C	NP_062562.1:p.Phe443Leu
NR_051961.1:n.1414T>C
XM_006719963.2:c.1186T>C	XP_006720026.1:p.Phe396Leu
XM_011537474.1:c.1435T>C	XP_011535776.1:p.Phe479Leu
XM_011537475.1:c.1249T>C	XP_011535777.1:p.Phe417Leu
XM_011537476.1:c.1087T>C	XP_011535778.1:p.Phe363Leu
XM_011537477.1:c.1396T>C	XP_011535779.1:p.Phe466Leu
XM_006719963.3:c.1231T>C	XP_006720026.2:p.Phe411Leu
XM_011537474.2:c.1480T>C	XP_011535776.2:p.Phe494Leu
XM_011537475.2:c.1294T>C	XP_011535777.2:p.Phe432Leu
XM_011537476.2:c.1087T>C	XP_011535778.1:p.Phe363Leu
NM_019616.4:c.1327T>C MANE Select	NP_062562.1:p.Phe443Leu
NR_051961.2:n.1411T>C
NM_001267554.2:c.1141T>C	NP_001254483.1:p.Phe381Leu