Canonical Allele Identifier: CA32387485
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs973739362
gnomAD v2: 1-169518863-T-A
gnomAD v3: 1-169549625-T-A
gnomAD v4: 1-169549625-T-A
MyVariant Identifiers: chr1:g.169518863T>A (hg19) chr1:g.169549625T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549625T>A , CM000663.2:g.169549625T>A GRCh38
NC_000001.10:g.169518863T>A , CM000663.1:g.169518863T>A GRCh37
NC_000001.9:g.167785487T>A NCBI36
NG_011806.1:g.41907A>T , LRG_553:g.41907A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1611+176A>T MANE Select ENSP00000356771.3:n.1611+176A>T
ENST00000367796.3:c.1611+176A>T ENSP00000356770.3:n.1611+176A>T
ENST00000367797.7:c.1611+176A>T ENSP00000356771.3:n.1611+176A>T
NM_000130.4:c.1611+176A>T , LRG_553t1:c.1611+176A>T NP_000121.2:n.1611+176A>T
XM_017000660.2:c.1200+176A>T XP_016856149.1:n.1200+176A>T
NM_000130.5:c.1611+176A>T MANE Select NP_000121.2:n.1611+176A>T
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