Canonical Allele Identifier: CA256461956

Gene: F7

Linked Data

• dbSNP Id: rs767892850
• gnomAD v2: 13-113773288-G-T
• gnomAD v3: 13-113118974-G-T
• gnomAD v4: 13-113118974-G-T
• MyVariant Identifiers: chr13:g.113773288G>T (hg19) ; chr13:g.113118974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118974G>T , CM000675.2:g.113118974G>T	GRCh38
NC_000013.10:g.113773288G>T , CM000675.1:g.113773288G>T	GRCh37
NC_000013.9:g.112821289G>T	NCBI36
NG_009258.1:g.1176G>T , LRG_548:g.1176G>T
NG_009262.1:g.18184G>T , LRG_554:g.18184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1301G>T MANE Select	ENSP00000329546.4:p.Arg434Leu
ENST00000346342.7:c.1301G>T	ENSP00000329546.3:p.Arg434Leu
ENST00000375581.3:c.1367G>T	ENSP00000364731.3:p.Arg456Leu
ENST00000541084.5:c.1115G>T	ENSP00000442051.2:p.Arg372Leu
NM_000131.4:c.1367G>T , LRG_554t1:c.1367G>T	NP_000122.1:p.Arg456Leu
NM_001267554.1:c.1115G>T	NP_001254483.1:p.Arg372Leu
NM_019616.3:c.1301G>T , LRG_554t2:c.1301G>T	NP_062562.1:p.Arg434Leu
NR_051961.1:n.1388G>T
XM_006719963.2:c.1160G>T	XP_006720026.1:p.Arg387Leu
XM_011537474.1:c.1409G>T	XP_011535776.1:p.Arg470Leu
XM_011537475.1:c.1223G>T	XP_011535777.1:p.Arg408Leu
XM_011537476.1:c.1061G>T	XP_011535778.1:p.Arg354Leu
XM_011537477.1:c.1370G>T	XP_011535779.1:p.Arg457Leu
XM_006719963.3:c.1205G>T	XP_006720026.2:p.Arg402Leu
XM_011537474.2:c.1454G>T	XP_011535776.2:p.Arg485Leu
XM_011537475.2:c.1268G>T	XP_011535777.2:p.Arg423Leu
XM_011537476.2:c.1061G>T	XP_011535778.1:p.Arg354Leu
NM_019616.4:c.1301G>T MANE Select	NP_062562.1:p.Arg434Leu
NR_051961.2:n.1385G>T
NM_001267554.2:c.1115G>T	NP_001254483.1:p.Arg372Leu