Canonical Allele Identifier: CA8315887
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs778615999
ExAC: 17:4849190 C / T
gnomAD v2: 17-4849190-C-T
gnomAD v3: 17-4945895-C-T
gnomAD v4: 17-4945895-C-T
MyVariant Identifiers: chr17:g.4849190C>T (hg19) chr17:g.4945895C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945895C>T , CM000679.2:g.4945895C>T GRCh38
NC_000017.10:g.4849190C>T , CM000679.1:g.4849190C>T GRCh37
NC_000017.9:g.4789935C>T NCBI36
NG_012063.2:g.4805C>T
NG_032945.1:g.8192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*5G>A MANE Select ENSP00000225655.5:n.*5G>A
ENST00000225655.5:c.*5G>A ENSP00000225655.5:n.*5G>A
ENST00000574872.1:c.*5G>A ENSP00000465019.1:n.*5G>A
NM_005022.3:c.*5G>A NP_005013.1:n.*5G>A
XM_017024761.1:c.*512G>A XP_016880250.1:n.*512G>A
NM_001375991.1:c.*512G>A NP_001362920.1:n.*512G>A
NM_005022.4:c.*5G>A MANE Select NP_005013.1:n.*5G>A
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