Canonical Allele Identifier: CA4463727
Gene: HYAL4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.123868319C>T
GRCh37 chr7:g.123508373C>T
Revel Score:
ENST00000489978 0.033
ENST00000488323 0.033
ENST00000223026 (MANE Select) 0.033
ENST00000476325 0.033
gnomAD v2:
7:123508373 C / T
gnomAD v3:
7:123868319 C / T
gnomAD v4:
chr7-123868319-C-T
Joint Max Group AF 0.00011606 (AFR)
Genomes Max Group AF 0.00004739 (AFR)
Exomes Max Group AF 0.00014887 (AFR)
ClinVar Allele:
2312693
ClinVar RCV:
RCV004169420
ClinVar Variation:
2325529
dbSNP:
370808923
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.123868319C>T , CM000669.2:g.123868319C>T GRCh38
NC_000007.13:g.123508373C>T , CM000669.1:g.123508373C>T GRCh37
NC_000007.12:g.123295609C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000223026.9:c.46C>T MANE Select ENSP00000223026.4:p.Pro16Ser
ENST00000223026.8:c.46C>T ENSP00000223026.4:p.Pro16Ser
ENST00000476325.5:c.46C>T ENSP00000417186.1:p.Pro16Ser
ENST00000483878.1:c.46C>T ENSP00000420264.1:p.Pro16Ser
ENST00000488323.5:c.46C>T ENSP00000417872.1:p.Pro16Ser
ENST00000489978.5:c.46C>T ENSP00000419522.1:p.Pro16Ser
NM_012269.2:c.46C>T NP_036401.2:p.Pro16Ser
XM_011515990.1:c.46C>T XP_011514292.1:p.Pro16Ser
XM_011515991.1:c.46C>T XP_011514293.1:p.Pro16Ser
XM_011515992.1:c.46C>T XP_011514294.1:p.Pro16Ser
XR_927425.1:n.338C>T
XM_011515990.2:c.46C>T XP_011514292.1:p.Pro16Ser
XM_017011911.1:c.46C>T XP_016867400.1:p.Pro16Ser
XM_024446703.1:c.46C>T XP_024302471.1:p.Pro16Ser
XR_002956416.1:n.522C>T
NM_012269.3:c.46C>T MANE Select NP_036401.2:p.Pro16Ser
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