Canonical Allele Identifier: CA343128688
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1221031088
gnomAD v2: 1-169521899-G-C
gnomAD v4: 1-169552661-G-C
MyVariant Identifiers: chr1:g.169521899G>C (hg19) chr1:g.169552661G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552661G>C , CM000663.2:g.169552661G>C GRCh38
NC_000001.10:g.169521899G>C , CM000663.1:g.169521899G>C GRCh37
NC_000001.9:g.167788523G>C NCBI36
NG_011806.1:g.38871C>G , LRG_553:g.38871C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1192C>G MANE Select ENSP00000356771.3:p.Gln398Glu
ENST00000367796.3:c.1192C>G ENSP00000356770.3:p.Gln398Glu
ENST00000367797.7:c.1192C>G ENSP00000356771.3:p.Gln398Glu
NM_000130.4:c.1192C>G , LRG_553t1:c.1192C>G NP_000121.2:p.Gln398Glu
XM_017000660.2:c.781C>G XP_016856149.1:p.Gln261Glu
NM_000130.5:c.1192C>G MANE Select NP_000121.2:p.Gln398Glu
Search 100 bp 5'
Search 100 bp 3'