Canonical Allele Identifier: CA8315911
Gene: PFN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1578642
ClinVar RCV Id: RCV002083693
dbSNP Id: rs370958423
ExAC: 17:4849309 G / A
gnomAD v2: 17-4849309-G-A
gnomAD v3: 17-4946014-G-A
gnomAD v4: 17-4946014-G-A
MyVariant Identifiers: chr17:g.4849309G>A (hg19) chr17:g.4849309_4849313delinsAAGAA (hg19) chr17:g.4946014G>A (hg38) chr17:g.4946014_4946018delinsAAGAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946014G>A , CM000679.2:g.4946014G>A GRCh38
NC_000017.10:g.4849309G>A , CM000679.1:g.4849309G>A GRCh37
NC_000017.9:g.4790054G>A NCBI36
NG_012063.2:g.4924G>A
NG_032945.1:g.8073C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-17C>T MANE Select ENSP00000225655.5:n.326-17C>T
ENST00000225655.5:c.326-17C>T ENSP00000225655.5:n.326-17C>T
ENST00000574872.1:c.218-17C>T ENSP00000465019.1:n.218-17C>T
NM_005022.3:c.326-17C>T NP_005013.1:n.326-17C>T
XM_017024761.1:c.*393C>T XP_016880250.1:n.*393C>T
NM_001375991.1:c.*393C>T NP_001362920.1:n.*393C>T
NM_005022.4:c.326-17C>T MANE Select NP_005013.1:n.326-17C>T
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