Canonical Allele Identifier: CA624624144
Gene: PFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1190266656
gnomAD v2: 17-4849154-C-G
gnomAD v4: 17-4945859-C-G
MyVariant Identifiers: chr17:g.4849154C>G (hg19) chr17:g.4945859C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945859C>G , CM000679.2:g.4945859C>G GRCh38
NC_000017.10:g.4849154C>G , CM000679.1:g.4849154C>G GRCh37
NC_000017.9:g.4789899C>G NCBI36
NG_012063.2:g.4769C>G
NG_032945.1:g.8228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*41G>C MANE Select ENSP00000225655.5:n.*41G>C
ENST00000225655.5:c.*41G>C ENSP00000225655.5:n.*41G>C
ENST00000574872.1:c.*41G>C ENSP00000465019.1:n.*41G>C
NM_005022.3:c.*41G>C NP_005013.1:n.*41G>C
XM_017024761.1:c.*548G>C XP_016880250.1:n.*548G>C
NM_001375991.1:c.*548G>C NP_001362920.1:n.*548G>C
NM_005022.4:c.*41G>C MANE Select NP_005013.1:n.*41G>C
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