Allele Registry

Canonical Allele Identifier: CA12703800

Gene: HYAL4 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.123771169A>C

GRCh37 chr7:g.123411223A>C

Linked Data - Sequence & Population

gnomAD v2:

7:123411223 A / C

gnomAD v3:

7:123771169 A / C

gnomAD v4:

chr7-123771169-A-C

Joint Max Group AF 0.1067938 (EAS)

Genomes Max Group AF 0.1067938 (EAS)

Linked Data - NCBI & NCI

dbSNP:

4731120

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.123771169A>C , CM000669.2:g.123771169A>C	GRCh38
NC_000007.13:g.123411223A>C , CM000669.1:g.123411223A>C	GRCh37
NC_000007.12:g.123198459A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017011911.1:c.-313+7433A>C	XP_016867400.1:n.-313+7433A>C

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