Canonical Allele Identifier: CA485423869

Gene: F7

Linked Data

• dbSNP Id: rs1278584802
• gnomAD v2: 13-113772827-C-T
• gnomAD v4: 13-113118513-C-T
• MyVariant Identifiers: chr13:g.113772827C>T (hg19) ; chr13:g.113118513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118513C>T , CM000675.2:g.113118513C>T	GRCh38
NC_000013.10:g.113772827C>T , CM000675.1:g.113772827C>T	GRCh37
NC_000013.9:g.112820828C>T	NCBI36
NG_009258.1:g.715C>T , LRG_548:g.715C>T
NG_009262.1:g.17723C>T , LRG_554:g.17723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.840C>T MANE Select	ENSP00000329546.4:p.Asp280=
ENST00000346342.7:c.840C>T	ENSP00000329546.3:p.Asp280=
ENST00000375581.3:c.906C>T	ENSP00000364731.3:p.Asp302=
ENST00000541084.5:c.654C>T	ENSP00000442051.2:p.Asp218=
NM_000131.4:c.906C>T , LRG_554t1:c.906C>T	NP_000122.1:p.Asp302=
NM_001267554.1:c.654C>T	NP_001254483.1:p.Asp218=
NM_019616.3:c.840C>T , LRG_554t2:c.840C>T	NP_062562.1:p.Asp280=
NR_051961.1:n.927C>T
XM_006719963.2:c.699C>T	XP_006720026.1:p.Asp233=
XM_011537474.1:c.948C>T	XP_011535776.1:p.Asp316=
XM_011537475.1:c.762C>T	XP_011535777.1:p.Asp254=
XM_011537476.1:c.600C>T	XP_011535778.1:p.Asp200=
XM_011537477.1:c.909C>T	XP_011535779.1:p.Asp303=
XM_006719963.3:c.744C>T	XP_006720026.2:p.Asp248=
XM_011537474.2:c.993C>T	XP_011535776.2:p.Asp331=
XM_011537475.2:c.807C>T	XP_011535777.2:p.Asp269=
XM_011537476.2:c.600C>T	XP_011535778.1:p.Asp200=
NM_019616.4:c.840C>T MANE Select	NP_062562.1:p.Asp280=
NR_051961.2:n.924C>T
NM_001267554.2:c.654C>T	NP_001254483.1:p.Asp218=