Canonical Allele Identifier: CA10641804
Gene: FECH HGNC NCBI

Linked Data

ClinVar Variation Id: 327378
ClinVar RCV Id: RCV000344378
dbSNP Id: rs886053980
gnomAD v2: 18-55215493-A-AC
gnomAD v3: 18-57548261-A-AC
gnomAD v4: 18-57548261-A-AC
MyVariant Identifiers: chr18:g.55215493_55215494insC (hg19) chr18:g.55215494_55215498delinsCAAAAC (hg19) chr18:g.57548261_57548262insC (hg38) chr18:g.57548262_57548266delinsCAAAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57548261_57548262insC , CM000680.2:g.57548261_57548262insC GRCh38
NC_000018.9:g.55215493_55215494insC , CM000680.1:g.55215493_55215494insC GRCh37
NC_000018.8:g.53366491_53366492insC NCBI36
NG_008175.1:g.43476_43477insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262093.11:c.*2450_*2451insG MANE Select ENSP00000262093.6:n.*2450_*2451insG
ENST00000652755.1:c.*2450_*2451insG ENSP00000498358.1:n.*2450_*2451insG
NM_000140.3:c.*2450_*2451insG NP_000131.2:n.*2450_*2451insG
NM_001012515.2:c.*2450_*2451insG NP_001012533.1:n.*2450_*2451insG
NM_000140.4:c.*2450_*2451insG NP_000131.2:n.*2450_*2451insG
NM_001012515.3:c.*2450_*2451insG NP_001012533.1:n.*2450_*2451insG
NM_000140.5:c.*2450_*2451insG MANE Select NP_000131.2:n.*2450_*2451insG
NM_001012515.4:c.*2450_*2451insG NP_001012533.1:n.*2450_*2451insG
NM_001371094.1:c.*2450_*2451insG NP_001358023.1:n.*2450_*2451insG
NM_001371095.1:c.*2450_*2451insG NP_001358024.1:n.*2450_*2451insG
NM_001374778.1:c.*2450_*2451insG NP_001361707.1:n.*2450_*2451insG
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