Canonical Allele Identifier: CA329528447

Gene: FUNDC1

Linked Data

• dbSNP Id: rs895897071
• gnomAD v3: X-44540895-C-G
• gnomAD v4: X-44540895-C-G
• MyVariant Identifiers: chrX:g.44400141C>G (hg19) ; chrX:g.44540895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.44540895C>G , CM000685.2:g.44540895C>G	GRCh38
NC_000023.10:g.44400141C>G , CM000685.1:g.44400141C>G	GRCh37
NC_000023.9:g.44285085C>G	NCBI36
NG_021288.1:g.7081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378045.5:c.185+1050G>C MANE Select	ENSP00000367284.4:n.185+1050G>C
ENST00000378045.4:c.185+1050G>C	ENSP00000367284.4:n.185+1050G>C
ENST00000483115.1:n.360+1050G>C
NM_173794.3:c.185+1050G>C	NP_776155.1:n.185+1050G>C
NM_173794.4:c.185+1050G>C MANE Select	NP_776155.1:n.185+1050G>C