Canonical Allele Identifier: CA329528452
Gene: FUNDC1 HGNC NCBI

Linked Data

dbSNP Id: rs750048224
gnomAD v2: X-44400212-C-T
gnomAD v3: X-44540966-C-T
gnomAD v4: X-44540966-C-T
MyVariant Identifiers: chrX:g.44400212C>T (hg19) chrX:g.44540966C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.44540966C>T , CM000685.2:g.44540966C>T GRCh38
NC_000023.10:g.44400212C>T , CM000685.1:g.44400212C>T GRCh37
NC_000023.9:g.44285156C>T NCBI36
NG_021288.1:g.7010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378045.5:c.185+979G>A MANE Select ENSP00000367284.4:n.185+979G>A
ENST00000378045.4:c.185+979G>A ENSP00000367284.4:n.185+979G>A
ENST00000483115.1:n.360+979G>A
NM_173794.3:c.185+979G>A NP_776155.1:n.185+979G>A
NM_173794.4:c.185+979G>A MANE Select NP_776155.1:n.185+979G>A
Search 100 bp 5'
Search 100 bp 3'