Canonical Allele Identifier: CA7059936

Gene: F7

Linked Data

• dbSNP Id: rs775380924
• ExAC: 13:113768297 A / C
• gnomAD v2: 13-113768297-A-C
• gnomAD v3: 13-113113983-A-C
• gnomAD v4: 13-113113983-A-C
• MyVariant Identifiers: chr13:g.113768297A>C (hg19) ; chr13:g.113113983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113983A>C , CM000675.2:g.113113983A>C	GRCh38
NC_000013.10:g.113768297A>C , CM000675.1:g.113768297A>C	GRCh37
NC_000013.9:g.112816298A>C	NCBI36
NG_009262.1:g.13193A>C , LRG_554:g.13193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.364+23A>C MANE Select	ENSP00000329546.4:n.364+23A>C
ENST00000346342.7:c.364+23A>C	ENSP00000329546.3:n.364+23A>C
ENST00000375581.3:c.430+23A>C	ENSP00000364731.3:n.430+23A>C
ENST00000444337.1:c.*172+23A>C	ENSP00000387669.1:n.*172+23A>C
ENST00000473085.1:n.311+23A>C
ENST00000479674.1:n.697+23A>C
ENST00000541084.5:c.178+23A>C	ENSP00000442051.2:n.178+23A>C
NM_000131.4:c.430+23A>C , LRG_554t1:c.430+23A>C	NP_000122.1:n.430+23A>C
NM_001267554.1:c.178+23A>C	NP_001254483.1:n.178+23A>C
NM_019616.3:c.364+23A>C , LRG_554t2:c.364+23A>C	NP_062562.1:n.364+23A>C
NR_051961.1:n.451+23A>C
XM_006719963.2:c.364+23A>C	XP_006720026.1:n.364+23A>C
XM_011537474.1:c.364+23A>C	XP_011535776.1:n.364+23A>C
XM_011537475.1:c.178+23A>C	XP_011535777.1:n.178+23A>C
XM_011537477.1:c.325+23A>C	XP_011535779.1:n.325+23A>C
XM_006719963.3:c.409+23A>C	XP_006720026.2:n.409+23A>C
XM_011537474.2:c.409+23A>C	XP_011535776.2:n.409+23A>C
XM_011537475.2:c.223+23A>C	XP_011535777.2:n.223+23A>C
NM_019616.4:c.364+23A>C MANE Select	NP_062562.1:n.364+23A>C
NR_051961.2:n.448+23A>C
NM_001267554.2:c.178+23A>C	NP_001254483.1:n.178+23A>C