Canonical Allele Identifier: CA641658900
Gene: FUNDC1 HGNC NCBI

Linked Data

dbSNP Id: rs996251880
gnomAD v2: X-44400311-C-T
gnomAD v3: X-44541065-C-T
gnomAD v4: X-44541065-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.44541065C>T , CM000685.2:g.44541065C>T GRCh38
NC_000023.10:g.44400311C>T , CM000685.1:g.44400311C>T GRCh37
NC_000023.9:g.44285255C>T NCBI36
NG_021288.1:g.6911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378045.5:c.185+880G>A MANE Select ENSP00000367284.4:n.185+880G>A
ENST00000378045.4:c.185+880G>A ENSP00000367284.4:n.185+880G>A
ENST00000483115.1:n.360+880G>A
NM_173794.3:c.185+880G>A NP_776155.1:n.185+880G>A
NM_173794.4:c.185+880G>A MANE Select NP_776155.1:n.185+880G>A