Allele Registry

Canonical Allele Identifier: CA12500173

Gene: MTCYBP42 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.22748655A>G

GRCh37 chr7:g.22788274A>G

Linked Data - Sequence & Population

gnomAD v2:

7:22788274 A / G

gnomAD v3:

7:22748655 A / G

gnomAD v4:

chr7-22748655-A-G

Joint Max Group AF 0.97554277 (EAS)

Genomes Max Group AF 0.97554277 (EAS)

Linked Data - NCBI & NCI

dbSNP:

7801406

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22748655A>G , CM000669.2:g.22748655A>G	GRCh38
NC_000007.13:g.22788274A>G , CM000669.1:g.22788274A>G	GRCh37
NC_000007.12:g.22754799A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444653.1:n.150T>C

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