Canonical Allele Identifier: CA960398054

Gene: F7

Linked Data

• dbSNP Id: rs2036261279
• gnomAD v3: 13-113119427-T-C
• gnomAD v4: 13-113119427-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119427T>C , CM000675.2:g.113119427T>C	GRCh38
NC_000013.10:g.113773741T>C , CM000675.1:g.113773741T>C	GRCh37
NC_000013.9:g.112821742T>C	NCBI36
NG_009258.1:g.1629T>C , LRG_548:g.1629T>C
NG_009262.1:g.18637T>C , LRG_554:g.18637T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.*419T>C MANE Select	ENSP00000329546.4:n.*419T>C
ENST00000346342.7:c.*419T>C	ENSP00000329546.3:n.*419T>C
ENST00000375581.3:c.*419T>C	ENSP00000364731.3:n.*419T>C
ENST00000541084.5:c.*419T>C	ENSP00000442051.2:n.*419T>C
NM_000131.4:c.*419T>C , LRG_554t1:c.*419T>C	NP_000122.1:n.*419T>C
NM_001267554.1:c.*419T>C	NP_001254483.1:n.*419T>C
NM_019616.3:c.*419T>C , LRG_554t2:c.*419T>C	NP_062562.1:n.*419T>C
NR_051961.1:n.1841T>C
XM_006719963.2:c.*419T>C	XP_006720026.1:n.*419T>C
XM_011537474.1:c.*419T>C	XP_011535776.1:n.*419T>C
XM_011537475.1:c.*419T>C	XP_011535777.1:n.*419T>C
XM_011537476.1:c.*419T>C	XP_011535778.1:n.*419T>C
XM_011537477.1:c.*419T>C	XP_011535779.1:n.*419T>C
XM_006719963.3:c.*419T>C	XP_006720026.2:n.*419T>C
XM_011537474.2:c.*419T>C	XP_011535776.2:n.*419T>C
XM_011537475.2:c.*419T>C	XP_011535777.2:n.*419T>C
XM_011537476.2:c.*419T>C	XP_011535778.1:n.*419T>C
NM_019616.4:c.*419T>C MANE Select	NP_062562.1:n.*419T>C
NR_051961.2:n.1838T>C
NM_001267554.2:c.*419T>C	NP_001254483.1:n.*419T>C