Canonical Allele Identifier: CA287230653
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs954548657
gnomAD v4: 17-4945831-T-G
MyVariant Identifiers: chr17:g.4849126T>G (hg19) chr17:g.4945831T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945831T>G , CM000679.2:g.4945831T>G GRCh38
NC_000017.10:g.4849126T>G , CM000679.1:g.4849126T>G GRCh37
NC_000017.9:g.4789871T>G NCBI36
NG_012063.2:g.4741T>G
NG_032945.1:g.8256A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*69A>C MANE Select ENSP00000225655.5:n.*69A>C
ENST00000225655.5:c.*69A>C ENSP00000225655.5:n.*69A>C
ENST00000574872.1:c.*69A>C ENSP00000465019.1:n.*69A>C
NM_005022.3:c.*69A>C NP_005013.1:n.*69A>C
XM_017024761.1:c.*576A>C XP_016880250.1:n.*576A>C
NM_001375991.1:c.*576A>C NP_001362920.1:n.*576A>C
NM_005022.4:c.*69A>C MANE Select NP_005013.1:n.*69A>C
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