Canonical Allele Identifier: CA234577401
Gene: RESF1 HGNC NCBI

Linked Data

dbSNP Id: rs1295
gnomAD v2: 12-32145887-G-C
gnomAD v3: 12-31992953-G-C
gnomAD v4: 12-31992953-G-C
MyVariant Identifiers: chr12:g.32145887G>C (hg19) chr12:g.31992953G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.31992953G>C , CM000674.2:g.31992953G>C GRCh38
NC_000012.11:g.32145887G>C , CM000674.1:g.32145887G>C GRCh37
NC_000012.10:g.32037154G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000312561.9:c.*418G>C MANE Select ENSP00000310338.4:n.*418G>C
ENST00000312561.8:c.*418G>C ENSP00000310338.4:n.*418G>C
ENST00000397578.7:n.798G>C
ENST00000543763.1:n.733G>C
NM_018169.3:c.*418G>C NP_060639.3:n.*418G>C
XM_005253405.1:c.*418G>C XP_005253462.1:n.*418G>C
XM_011520722.1:c.*418G>C XP_011519024.1:n.*418G>C
XM_005253405.3:c.*418G>C XP_005253462.1:n.*418G>C
XM_017019550.2:c.*418G>C XP_016875039.1:n.*418G>C
NM_018169.4:c.*418G>C MANE Select NP_060639.4:n.*418G>C
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