Canonical Allele Identifier: CA2777799

Gene: TFRC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196055306A>G , CM000665.2:g.196055306A>G	GRCh38
NC_000003.11:g.195782177A>G , CM000665.1:g.195782177A>G	GRCh37
NC_000003.10:g.197266574A>G	NCBI36
NG_046395.1:g.31856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426789.6:n.1749-5T>C
ENST00000475593.6:n.3326-5T>C
ENST00000477148.2:n.3118-5T>C
ENST00000483983.6:n.684-5T>C
ENST00000491658.2:n.1866-5T>C
ENST00000698274.1:c.1678-5T>C	ENSP00000513645.1:n.1678-5T>C
ENST00000698275.1:n.1854-5T>C
ENST00000698277.1:n.1368-5T>C
ENST00000698278.1:n.1197-5T>C
ENST00000698279.1:n.1173-5T>C
ENST00000698280.1:c.1678-5T>C	ENSP00000513646.1:n.1678-5T>C
ENST00000698281.1:c.*1259-5T>C	ENSP00000513647.1:n.*1259-5T>C
ENST00000698282.1:c.*927-5T>C	ENSP00000513648.1:n.*927-5T>C
ENST00000698283.1:c.1783-5T>C	ENSP00000513649.1:n.1783-5T>C
ENST00000698284.1:n.2026-5T>C
ENST00000698285.1:c.832-5T>C	ENSP00000513650.1:n.832-5T>C
ENST00000698286.1:c.832-5T>C	ENSP00000513651.1:n.832-5T>C
ENST00000698287.1:n.2169-5T>C
ENST00000698288.1:c.*927-5T>C	ENSP00000513652.1:n.*927-5T>C
ENST00000698289.1:n.1957-5T>C
ENST00000698290.1:c.1678-1748T>C	ENSP00000513653.1:n.1678-1748T>C
ENST00000698291.1:c.1678-5T>C	ENSP00000513654.1:n.1678-5T>C
ENST00000698292.1:n.3613-5T>C
ENST00000698293.1:n.2020-5T>C
ENST00000698294.1:c.1017-5T>C
ENST00000698295.1:c.832-5T>C	ENSP00000513656.1:n.832-5T>C
ENST00000360110.9:c.1678-5T>C MANE Select	ENSP00000353224.4:n.1678-5T>C
ENST00000360110.8:c.1678-5T>C	ENSP00000353224.4:n.1678-5T>C
ENST00000392396.7:c.1678-5T>C	ENSP00000376197.3:n.1678-5T>C
ENST00000420415.5:c.1435-5T>C	ENSP00000390133.1:n.1435-5T>C
ENST00000463047.1:n.256T>C
ENST00000475593.5:n.604-5T>C
ENST00000483983.5:n.567-5T>C
NM_001128148.1:c.1678-5T>C	NP_001121620.1:n.1678-5T>C
NM_001128148.2:c.1678-5T>C	NP_001121620.1:n.1678-5T>C
NM_001313965.1:c.1435-5T>C	NP_001300894.1:n.1435-5T>C
NM_001313966.1:c.832-5T>C	NP_001300895.1:n.832-5T>C
NM_003234.2:c.1678-5T>C	NP_003225.2:n.1678-5T>C
NM_003234.3:c.1678-5T>C	NP_003225.2:n.1678-5T>C
XM_024453731.1:c.1678-5T>C	XP_024309499.1:n.1678-5T>C
XM_024453732.1:c.1678-5T>C	XP_024309500.1:n.1678-5T>C
XR_002959575.1:n.1782-5T>C
XR_002959576.1:n.1782-5T>C
XR_002959577.1:n.1782-5T>C
XR_002959578.1:n.1782-5T>C
NM_001128148.3:c.1678-5T>C MANE Select	NP_001121620.1:n.1678-5T>C
NM_001313965.2:c.1435-5T>C	NP_001300894.1:n.1435-5T>C
NM_001313966.2:c.832-5T>C	NP_001300895.1:n.832-5T>C
NM_003234.4:c.1678-5T>C	NP_003225.2:n.1678-5T>C