Canonical Allele Identifier: CA875592743
Gene: FUNDC1 HGNC NCBI

Linked Data

dbSNP Id: rs1240736678
gnomAD v3: X-44541000-C-A
gnomAD v4: X-44541000-C-A
MyVariant Identifiers: chrX:g.44400246C>A (hg19) chrX:g.44541000C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.44541000C>A , CM000685.2:g.44541000C>A GRCh38
NC_000023.10:g.44400246C>A , CM000685.1:g.44400246C>A GRCh37
NC_000023.9:g.44285190C>A NCBI36
NG_021288.1:g.6976G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378045.5:c.185+945G>T MANE Select ENSP00000367284.4:n.185+945G>T
ENST00000378045.4:c.185+945G>T ENSP00000367284.4:n.185+945G>T
ENST00000483115.1:n.360+945G>T
NM_173794.3:c.185+945G>T NP_776155.1:n.185+945G>T
NM_173794.4:c.185+945G>T MANE Select NP_776155.1:n.185+945G>T
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