Canonical Allele Identifier: CA32387512
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs72561750
gnomAD v2: 1-169518954-C-T
gnomAD v3: 1-169549716-C-T
gnomAD v4: 1-169549716-C-T
MyVariant Identifiers: chr1:g.169518954C>T (hg19) chr1:g.169549716C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549716C>T , CM000663.2:g.169549716C>T GRCh38
NC_000001.10:g.169518954C>T , CM000663.1:g.169518954C>T GRCh37
NC_000001.9:g.167785578C>T NCBI36
NG_011806.1:g.41816G>A , LRG_553:g.41816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.1611+85G>A MANE Select ENSP00000356771.3:n.1611+85G>A
ENST00000367796.3:c.1611+85G>A ENSP00000356770.3:n.1611+85G>A
ENST00000367797.7:c.1611+85G>A ENSP00000356771.3:n.1611+85G>A
NM_000130.4:c.1611+85G>A , LRG_553t1:c.1611+85G>A NP_000121.2:n.1611+85G>A
XM_017000660.2:c.1200+85G>A XP_016856149.1:n.1200+85G>A
NM_000130.5:c.1611+85G>A MANE Select NP_000121.2:n.1611+85G>A
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