Canonical Allele Identifier: CA875592704
Gene: FUNDC1 HGNC NCBI

Linked Data

dbSNP Id: rs1438886524
gnomAD v3: X-44540885-T-C
gnomAD v4: X-44540885-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.44540885T>C , CM000685.2:g.44540885T>C GRCh38
NC_000023.10:g.44400131T>C , CM000685.1:g.44400131T>C GRCh37
NC_000023.9:g.44285075T>C NCBI36
NG_021288.1:g.7091A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378045.5:c.185+1060A>G MANE Select ENSP00000367284.4:n.185+1060A>G
ENST00000378045.4:c.185+1060A>G ENSP00000367284.4:n.185+1060A>G
ENST00000483115.1:n.360+1060A>G
NM_173794.3:c.185+1060A>G NP_776155.1:n.185+1060A>G
NM_173794.4:c.185+1060A>G MANE Select NP_776155.1:n.185+1060A>G