Canonical Allele Identifier: CA1234446
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs200531616
ExAC: 1:169524479 G / C
gnomAD v2: 1-169524479-G-C
gnomAD v3: 1-169555241-G-C
gnomAD v4: 1-169555241-G-C
MyVariant Identifiers: chr1:g.169524479G>C (hg19) chr1:g.169555241G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555241G>C , CM000663.2:g.169555241G>C GRCh38
NC_000001.10:g.169524479G>C , CM000663.1:g.169524479G>C GRCh37
NC_000001.9:g.167791103G>C NCBI36
NG_011806.1:g.36291C>G , LRG_553:g.36291C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1059C>G MANE Select ENSP00000356771.3:p.Phe353Leu
ENST00000367796.3:c.1059C>G ENSP00000356770.3:p.Phe353Leu
ENST00000367797.7:c.1059C>G ENSP00000356771.3:p.Phe353Leu
NM_000130.4:c.1059C>G , LRG_553t1:c.1059C>G NP_000121.2:p.Phe353Leu
XM_017000660.2:c.648C>G XP_016856149.1:p.Phe216Leu
NM_000130.5:c.1059C>G MANE Select NP_000121.2:p.Phe353Leu
Search 100 bp 5'
Search 100 bp 3'