Canonical Allele Identifier: CA388786286

Gene: F7

Linked Data

• gnomAD v2: 13-113772993-A-T
• gnomAD v4: 13-113118679-A-T
• MyVariant Identifiers: chr13:g.113772993A>T (hg19) ; chr13:g.113118679A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118679A>T , CM000675.2:g.113118679A>T	GRCh38
NC_000013.10:g.113772993A>T , CM000675.1:g.113772993A>T	GRCh37
NC_000013.9:g.112820994A>T	NCBI36
NG_009258.1:g.881A>T , LRG_548:g.881A>T
NG_009262.1:g.17889A>T , LRG_554:g.17889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1006A>T MANE Select	ENSP00000329546.4:p.Met336Leu
ENST00000346342.7:c.1006A>T	ENSP00000329546.3:p.Met336Leu
ENST00000375581.3:c.1072A>T	ENSP00000364731.3:p.Met358Leu
ENST00000541084.5:c.820A>T	ENSP00000442051.2:p.Met274Leu
NM_000131.4:c.1072A>T , LRG_554t1:c.1072A>T	NP_000122.1:p.Met358Leu
NM_001267554.1:c.820A>T	NP_001254483.1:p.Met274Leu
NM_019616.3:c.1006A>T , LRG_554t2:c.1006A>T	NP_062562.1:p.Met336Leu
NR_051961.1:n.1093A>T
XM_006719963.2:c.865A>T	XP_006720026.1:p.Met289Leu
XM_011537474.1:c.1114A>T	XP_011535776.1:p.Met372Leu
XM_011537475.1:c.928A>T	XP_011535777.1:p.Met310Leu
XM_011537476.1:c.766A>T	XP_011535778.1:p.Met256Leu
XM_011537477.1:c.1075A>T	XP_011535779.1:p.Met359Leu
XM_006719963.3:c.910A>T	XP_006720026.2:p.Met304Leu
XM_011537474.2:c.1159A>T	XP_011535776.2:p.Met387Leu
XM_011537475.2:c.973A>T	XP_011535777.2:p.Met325Leu
XM_011537476.2:c.766A>T	XP_011535778.1:p.Met256Leu
NM_019616.4:c.1006A>T MANE Select	NP_062562.1:p.Met336Leu
NR_051961.2:n.1090A>T
NM_001267554.2:c.820A>T	NP_001254483.1:p.Met274Leu