Canonical Allele Identifier: CA10633916

Gene: F7

Linked Data

• ClinVar Variation Id: 311235
• ClinVar RCV Id: RCV000316920
• dbSNP Id: rs545497651
• gnomAD v2: 13-113773662-T-C
• gnomAD v3: 13-113119348-T-C
• gnomAD v4: 13-113119348-T-C
• MyVariant Identifiers: chr13:g.113773662T>C (hg19) ; chr13:g.113119348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119348T>C , CM000675.2:g.113119348T>C	GRCh38
NC_000013.10:g.113773662T>C , CM000675.1:g.113773662T>C	GRCh37
NC_000013.9:g.112821663T>C	NCBI36
NG_009258.1:g.1550T>C , LRG_548:g.1550T>C
NG_009262.1:g.18558T>C , LRG_554:g.18558T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.*340T>C MANE Select	ENSP00000329546.4:n.*340T>C
ENST00000346342.7:c.*340T>C	ENSP00000329546.3:n.*340T>C
ENST00000375581.3:c.*340T>C	ENSP00000364731.3:n.*340T>C
ENST00000541084.5:c.*340T>C	ENSP00000442051.2:n.*340T>C
NM_000131.4:c.*340T>C , LRG_554t1:c.*340T>C	NP_000122.1:n.*340T>C
NM_001267554.1:c.*340T>C	NP_001254483.1:n.*340T>C
NM_019616.3:c.*340T>C , LRG_554t2:c.*340T>C	NP_062562.1:n.*340T>C
NR_051961.1:n.1762T>C
XM_006719963.2:c.*340T>C	XP_006720026.1:n.*340T>C
XM_011537474.1:c.*340T>C	XP_011535776.1:n.*340T>C
XM_011537475.1:c.*340T>C	XP_011535777.1:n.*340T>C
XM_011537476.1:c.*340T>C	XP_011535778.1:n.*340T>C
XM_011537477.1:c.*340T>C	XP_011535779.1:n.*340T>C
XM_006719963.3:c.*340T>C	XP_006720026.2:n.*340T>C
XM_011537474.2:c.*340T>C	XP_011535776.2:n.*340T>C
XM_011537475.2:c.*340T>C	XP_011535777.2:n.*340T>C
XM_011537476.2:c.*340T>C	XP_011535778.1:n.*340T>C
NM_019616.4:c.*340T>C MANE Select	NP_062562.1:n.*340T>C
NR_051961.2:n.1759T>C
NM_001267554.2:c.*340T>C	NP_001254483.1:n.*340T>C