Canonical Allele Identifier: CA2447072
Gene: ITIH1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52781889T>C
GRCh37 chr3:g.52815905T>C
gnomAD v2:
3:52815905 T / C
gnomAD v3:
3:52781889 T / C
gnomAD v4:
chr3-52781889-T-C
Joint Max Group AF 0.66560301 (AFR)
Genomes Max Group AF 0.65804948 (AFR)
Exomes Max Group AF 0.67048137 (AFR)
dbSNP:
2710323
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52781889T>C , CM000665.2:g.52781889T>C GRCh38
NC_000003.11:g.52815905T>C , CM000665.1:g.52815905T>C GRCh37
NC_000003.10:g.52790945T>C NCBI36
NG_016005.1:g.9298T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273283.7:c.688-51T>C MANE Select ENSP00000273283.2:n.688-51T>C
ENST00000273283.6:c.688-51T>C ENSP00000273283.2:n.688-51T>C
ENST00000478667.5:n.174-51T>C
ENST00000487686.5:n.288-51T>C
ENST00000494603.1:n.267-51T>C
ENST00000537050.5:c.-177-51T>C ENSP00000443847.1:n.-177-51T>C
ENST00000628722.2:n.543-51T>C
NM_001166434.2:c.262-51T>C NP_001159906.1:n.262-51T>C
NM_001166435.2:c.-177-51T>C NP_001159907.1:n.-177-51T>C
NM_001166436.2:c.-177-51T>C NP_001159908.1:n.-177-51T>C
NM_002215.3:c.688-51T>C NP_002206.2:n.688-51T>C
NM_002215.4:c.688-51T>C MANE Select NP_002206.2:n.688-51T>C
NM_001166434.3:c.262-51T>C NP_001159906.1:n.262-51T>C
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