Canonical Allele Identifier: CA6041382

Gene: FTH1

Linked Data

• ClinVar Variation Id: 305148
• ClinVar RCV Id: RCV000375407
• dbSNP Id: rs763318260
• ExAC: 11:61735118 C / T
• gnomAD v2: 11-61735118-C-T
• gnomAD v3: 11-61967646-C-T
• gnomAD v4: 11-61967646-C-T
• MyVariant Identifiers: chr11:g.61735118C>T (hg19) ; chr11:g.61967646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61967646C>T , CM000673.2:g.61967646C>T	GRCh38
NC_000011.9:g.61735118C>T , CM000673.1:g.61735118C>T	GRCh37
NC_000011.8:g.61491694C>T	NCBI36
NG_008346.1:g.5015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.11:c.-221G>A	ENSP00000273550.7:n.-221G>A
NM_002032.2:c.-221G>A	NP_002023.2:n.-221G>A