Canonical Allele Identifier: CA388785917

Gene: F7

Linked Data

• dbSNP Id: rs765241636
• gnomAD v2: 13-113772802-A-T
• MyVariant Identifiers: chr13:g.113772802A>T (hg19) ; chr13:g.113118488A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118488A>T , CM000675.2:g.113118488A>T	GRCh38
NC_000013.10:g.113772802A>T , CM000675.1:g.113772802A>T	GRCh37
NC_000013.9:g.112820803A>T	NCBI36
NG_009258.1:g.690A>T , LRG_548:g.690A>T
NG_009262.1:g.17698A>T , LRG_554:g.17698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.815A>T MANE Select	ENSP00000329546.4:p.Tyr272Phe
ENST00000346342.7:c.815A>T	ENSP00000329546.3:p.Tyr272Phe
ENST00000375581.3:c.881A>T	ENSP00000364731.3:p.Tyr294Phe
ENST00000541084.5:c.629A>T	ENSP00000442051.2:p.Tyr210Phe
NM_000131.4:c.881A>T , LRG_554t1:c.881A>T	NP_000122.1:p.Tyr294Phe
NM_001267554.1:c.629A>T	NP_001254483.1:p.Tyr210Phe
NM_019616.3:c.815A>T , LRG_554t2:c.815A>T	NP_062562.1:p.Tyr272Phe
NR_051961.1:n.902A>T
XM_006719963.2:c.674A>T	XP_006720026.1:p.Tyr225Phe
XM_011537474.1:c.923A>T	XP_011535776.1:p.Tyr308Phe
XM_011537475.1:c.737A>T	XP_011535777.1:p.Tyr246Phe
XM_011537476.1:c.575A>T	XP_011535778.1:p.Tyr192Phe
XM_011537477.1:c.884A>T	XP_011535779.1:p.Tyr295Phe
XM_006719963.3:c.719A>T	XP_006720026.2:p.Tyr240Phe
XM_011537474.2:c.968A>T	XP_011535776.2:p.Tyr323Phe
XM_011537475.2:c.782A>T	XP_011535777.2:p.Tyr261Phe
XM_011537476.2:c.575A>T	XP_011535778.1:p.Tyr192Phe
NM_019616.4:c.815A>T MANE Select	NP_062562.1:p.Tyr272Phe
NR_051961.2:n.899A>T
NM_001267554.2:c.629A>T	NP_001254483.1:p.Tyr210Phe