Canonical Allele Identifier: CA329528451

Gene: FUNDC1

Linked Data

• dbSNP Id: rs997112145
• gnomAD v2: X-44400199-A-T
• gnomAD v3: X-44540953-A-T
• gnomAD v4: X-44540953-A-T
• MyVariant Identifiers: chrX:g.44400199A>T (hg19) ; chrX:g.44540953A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.44540953A>T , CM000685.2:g.44540953A>T	GRCh38
NC_000023.10:g.44400199A>T , CM000685.1:g.44400199A>T	GRCh37
NC_000023.9:g.44285143A>T	NCBI36
NG_021288.1:g.7023T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378045.5:c.185+992T>A MANE Select	ENSP00000367284.4:n.185+992T>A
ENST00000378045.4:c.185+992T>A	ENSP00000367284.4:n.185+992T>A
ENST00000483115.1:n.360+992T>A
NM_173794.3:c.185+992T>A	NP_776155.1:n.185+992T>A
NM_173794.4:c.185+992T>A MANE Select	NP_776155.1:n.185+992T>A