Canonical Allele Identifier: CA1132721989
Gene: FUNDC1 HGNC NCBI

Linked Data

dbSNP Id: rs2038969164
gnomAD v3: X-44540977-C-T
gnomAD v4: X-44540977-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.44540977C>T , CM000685.2:g.44540977C>T GRCh38
NC_000023.10:g.44400223C>T , CM000685.1:g.44400223C>T GRCh37
NC_000023.9:g.44285167C>T NCBI36
NG_021288.1:g.6999G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378045.5:c.185+968G>A MANE Select ENSP00000367284.4:n.185+968G>A
ENST00000378045.4:c.185+968G>A ENSP00000367284.4:n.185+968G>A
ENST00000483115.1:n.360+968G>A
NM_173794.3:c.185+968G>A NP_776155.1:n.185+968G>A
NM_173794.4:c.185+968G>A MANE Select NP_776155.1:n.185+968G>A