Canonical Allele Identifier: CA641658889

Gene: FUNDC1

Linked Data

• dbSNP Id: rs1251418938
• gnomAD v2: X-44400138-A-G
• gnomAD v3: X-44540892-A-G
• gnomAD v4: X-44540892-A-G
• MyVariant Identifiers: chrX:g.44400138A>G (hg19) ; chrX:g.44540892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.44540892A>G , CM000685.2:g.44540892A>G	GRCh38
NC_000023.10:g.44400138A>G , CM000685.1:g.44400138A>G	GRCh37
NC_000023.9:g.44285082A>G	NCBI36
NG_021288.1:g.7084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378045.5:c.185+1053T>C MANE Select	ENSP00000367284.4:n.185+1053T>C
ENST00000378045.4:c.185+1053T>C	ENSP00000367284.4:n.185+1053T>C
ENST00000483115.1:n.360+1053T>C
NM_173794.3:c.185+1053T>C	NP_776155.1:n.185+1053T>C
NM_173794.4:c.185+1053T>C MANE Select	NP_776155.1:n.185+1053T>C