Canonical Allele Identifier: CA24399290
Gene: PDE4B HGNC NCBI

Linked Data

dbSNP Id: rs187246271
gnomAD v2: 1-66310793-T-C
gnomAD v3: 1-65845110-T-C
gnomAD v4: 1-65845110-T-C
MyVariant Identifiers: chr1:g.66310793T>C (hg19) chr1:g.65845110T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65845110T>C , CM000663.2:g.65845110T>C GRCh38
NC_000001.10:g.66310793T>C , CM000663.1:g.66310793T>C GRCh37
NC_000001.9:g.66083381T>C NCBI36
NG_029038.1:g.57601T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000341517.9:c.-71+51862T>C MANE Select ENSP00000342637.4:n.-71+51862T>C
ENST00000329654.8:c.-71+52480T>C ENSP00000332116.4:n.-71+52480T>C
ENST00000341517.8:c.-71+51862T>C ENSP00000342637.4:n.-71+51862T>C
NM_001037341.1:c.-71+52480T>C NP_001032418.1:n.-71+52480T>C
NM_001297440.1:c.-108+52480T>C NP_001284369.1:n.-108+52480T>C
NM_002600.3:c.-71+51862T>C NP_002591.2:n.-71+51862T>C
NM_002600.4:c.-71+51862T>C MANE Select NP_002591.2:n.-71+51862T>C
NM_001037341.2:c.-71+52480T>C NP_001032418.1:n.-71+52480T>C
NM_001297440.2:c.-108+52480T>C NP_001284369.1:n.-108+52480T>C
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