Canonical Allele Identifier: CA527131126
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1444416822
gnomAD v2: 1-169498781-G-A
gnomAD v3: 1-169529543-G-A
gnomAD v4: 1-169529543-G-A
MyVariant Identifiers: chr1:g.169498781G>A (hg19) chr1:g.169529543G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169529543G>A , CM000663.2:g.169529543G>A GRCh38
NC_000001.10:g.169498781G>A , CM000663.1:g.169498781G>A GRCh37
NC_000001.9:g.167765405G>A NCBI36
NG_011806.1:g.61989C>T , LRG_553:g.61989C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5419+65C>T MANE Select ENSP00000356771.3:n.5419+65C>T
ENST00000367796.3:c.5434+65C>T ENSP00000356770.3:n.5434+65C>T
ENST00000367797.7:c.5419+65C>T ENSP00000356771.3:n.5419+65C>T
NM_000130.4:c.5419+65C>T , LRG_553t1:c.5419+65C>T NP_000121.2:n.5419+65C>T
XM_017000660.2:c.5008+65C>T XP_016856149.1:n.5008+65C>T
NM_000130.5:c.5419+65C>T MANE Select NP_000121.2:n.5419+65C>T
Search 100 bp 5'
Search 100 bp 3'