Canonical Allele Identifier: CA7060213

Gene: F7

Linked Data

• dbSNP Id: rs149283257
• ExAC: 13:113772995 G / A
• gnomAD v2: 13-113772995-G-A
• gnomAD v3: 13-113118681-G-A
• gnomAD v4: 13-113118681-G-A
• MyVariant Identifiers: chr13:g.113772995G>A (hg19) ; chr13:g.113118681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118681G>A , CM000675.2:g.113118681G>A	GRCh38
NC_000013.10:g.113772995G>A , CM000675.1:g.113772995G>A	GRCh37
NC_000013.9:g.112820996G>A	NCBI36
NG_009258.1:g.883G>A , LRG_548:g.883G>A
NG_009262.1:g.17891G>A , LRG_554:g.17891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1008G>A MANE Select	ENSP00000329546.4:p.Met336Ile
ENST00000346342.7:c.1008G>A	ENSP00000329546.3:p.Met336Ile
ENST00000375581.3:c.1074G>A	ENSP00000364731.3:p.Met358Ile
ENST00000541084.5:c.822G>A	ENSP00000442051.2:p.Met274Ile
NM_000131.4:c.1074G>A , LRG_554t1:c.1074G>A	NP_000122.1:p.Met358Ile
NM_001267554.1:c.822G>A	NP_001254483.1:p.Met274Ile
NM_019616.3:c.1008G>A , LRG_554t2:c.1008G>A	NP_062562.1:p.Met336Ile
NR_051961.1:n.1095G>A
XM_006719963.2:c.867G>A	XP_006720026.1:p.Met289Ile
XM_011537474.1:c.1116G>A	XP_011535776.1:p.Met372Ile
XM_011537475.1:c.930G>A	XP_011535777.1:p.Met310Ile
XM_011537476.1:c.768G>A	XP_011535778.1:p.Met256Ile
XM_011537477.1:c.1077G>A	XP_011535779.1:p.Met359Ile
XM_006719963.3:c.912G>A	XP_006720026.2:p.Met304Ile
XM_011537474.2:c.1161G>A	XP_011535776.2:p.Met387Ile
XM_011537475.2:c.975G>A	XP_011535777.2:p.Met325Ile
XM_011537476.2:c.768G>A	XP_011535778.1:p.Met256Ile
NM_019616.4:c.1008G>A MANE Select	NP_062562.1:p.Met336Ile
NR_051961.2:n.1092G>A
NM_001267554.2:c.822G>A	NP_001254483.1:p.Met274Ile