Canonical Allele Identifier: CA8315875
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs763710875
ExAC: 17:4849163 G / C
gnomAD v2: 17-4849163-G-C
gnomAD v4: 17-4945868-G-C
MyVariant Identifiers: chr17:g.4849163G>C (hg19) chr17:g.4945868G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945868G>C , CM000679.2:g.4945868G>C GRCh38
NC_000017.10:g.4849163G>C , CM000679.1:g.4849163G>C GRCh37
NC_000017.9:g.4789908G>C NCBI36
NG_012063.2:g.4778G>C
NG_032945.1:g.8219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*32C>G MANE Select ENSP00000225655.5:n.*32C>G
ENST00000225655.5:c.*32C>G ENSP00000225655.5:n.*32C>G
ENST00000574872.1:c.*32C>G ENSP00000465019.1:n.*32C>G
NM_005022.3:c.*32C>G NP_005013.1:n.*32C>G
XM_017024761.1:c.*539C>G XP_016880250.1:n.*539C>G
NM_001375991.1:c.*539C>G NP_001362920.1:n.*539C>G
NM_005022.4:c.*32C>G MANE Select NP_005013.1:n.*32C>G
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