Canonical Allele Identifier: CA343117939
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1367060520
gnomAD v2: 1-169510901-C-G
gnomAD v3: 1-169541663-C-G
gnomAD v4: 1-169541663-C-G
MyVariant Identifiers: chr1:g.169510901C>G (hg19) chr1:g.169541663C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541663C>G , CM000663.2:g.169541663C>G GRCh38
NC_000001.10:g.169510901C>G , CM000663.1:g.169510901C>G GRCh37
NC_000001.9:g.167777525C>G NCBI36
NG_011806.1:g.49869G>C , LRG_553:g.49869G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3427G>C MANE Select ENSP00000356771.3:p.Asp1143His
ENST00000367796.3:c.3442G>C ENSP00000356770.3:p.Asp1148His
ENST00000367797.7:c.3427G>C ENSP00000356771.3:p.Asp1143His
NM_000130.4:c.3427G>C , LRG_553t1:c.3427G>C NP_000121.2:p.Asp1143His
XM_017000660.2:c.3016G>C XP_016856149.1:p.Asp1006His
NM_000130.5:c.3427G>C MANE Select NP_000121.2:p.Asp1143His
Search 100 bp 5'
Search 100 bp 3'