Canonical Allele Identifier: CA90771096
Gene: TFRC HGNC NCBI

Linked Data

dbSNP Id: rs1050153
MyVariant Identifiers: chr3:g.195776315G>A (hg19) chr3:g.196049444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196049444G>A , CM000665.2:g.196049444G>A GRCh38
NC_000003.11:g.195776315G>A , CM000665.1:g.195776315G>A GRCh37
NC_000003.10:g.197260712G>A NCBI36
NG_046395.1:g.37718C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426789.6:n.2111+3974C>T
ENST00000475593.6:n.6429C>T
ENST00000477148.2:n.6221C>T
ENST00000483983.6:n.3787C>T
ENST00000491658.2:n.4969C>T
ENST00000698274.1:c.2040+3974C>T ENSP00000513645.1:n.2040+3974C>T
ENST00000698275.1:n.2216+3974C>T
ENST00000698276.1:n.3663C>T
ENST00000698277.1:n.4471C>T
ENST00000698278.1:n.4300C>T
ENST00000698279.1:n.4276C>T
ENST00000698280.1:c.*2498C>T ENSP00000513646.1:n.*2498C>T
ENST00000698281.1:c.*4444C>T ENSP00000513647.1:n.*4444C>T
ENST00000698282.1:c.*4030C>T ENSP00000513648.1:n.*4030C>T
ENST00000698283.1:c.*2498C>T ENSP00000513649.1:n.*2498C>T
ENST00000698284.1:n.5129C>T
ENST00000698285.1:c.*2498C>T ENSP00000513650.1:n.*2498C>T
ENST00000698286.1:c.*2498C>T ENSP00000513651.1:n.*2498C>T
ENST00000698287.1:n.5272C>T
ENST00000698288.1:c.*4030C>T ENSP00000513652.1:n.*4030C>T
ENST00000698289.1:n.5844C>T
ENST00000698290.1:c.*2498C>T ENSP00000513653.1:n.*2498C>T
ENST00000698291.1:c.*2498C>T ENSP00000513654.1:n.*2498C>T
ENST00000698292.1:n.6716C>T
ENST00000698293.1:n.5123C>T
ENST00000698294.1:c.4120C>T
ENST00000360110.9:c.*2498C>T MANE Select ENSP00000353224.4:n.*2498C>T
ENST00000360110.8:c.*2498C>T ENSP00000353224.4:n.*2498C>T
ENST00000420415.5:c.*2498C>T ENSP00000390133.1:n.*2498C>T
ENST00000426789.5:c.276+3974C>T ENSP00000414015.1:n.276+3974C>T
NM_001128148.1:c.*2498C>T NP_001121620.1:n.*2498C>T
NM_001128148.2:c.*2498C>T NP_001121620.1:n.*2498C>T
NM_001313965.1:c.*2498C>T NP_001300894.1:n.*2498C>T
NM_001313966.1:c.*2498C>T NP_001300895.1:n.*2498C>T
NM_003234.2:c.*2498C>T NP_003225.2:n.*2498C>T
NM_003234.3:c.*2498C>T NP_003225.2:n.*2498C>T
XM_024453731.1:c.2040+3974C>T XP_024309499.1:n.2040+3974C>T
XM_024453732.1:c.2040+3974C>T XP_024309500.1:n.2040+3974C>T
XR_002959575.1:n.2144+3974C>T
XR_002959576.1:n.2144+3974C>T
XR_002959577.1:n.2144+3974C>T
XR_002959578.1:n.2144+3974C>T
NM_001128148.3:c.*2498C>T MANE Select NP_001121620.1:n.*2498C>T
NM_001313965.2:c.*2498C>T NP_001300894.1:n.*2498C>T
NM_001313966.2:c.*2498C>T NP_001300895.1:n.*2498C>T
NM_003234.4:c.*2498C>T NP_003225.2:n.*2498C>T
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