Canonical Allele Identifier: CA10628757

Gene: HYCC1

Linked Data

• ClinVar Variation Id: 359733
• ClinVar RCV Id: RCV000318735
• dbSNP Id: rs186923912
• gnomAD v2: 7-22983010-T-C
• gnomAD v3: 7-22943391-T-C
• gnomAD v4: 7-22943391-T-C
• MyVariant Identifiers: chr7:g.22983010T>C (hg19) ; chr7:g.22943391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22943391T>C , CM000669.2:g.22943391T>C	GRCh38
NC_000007.13:g.22983010T>C , CM000669.1:g.22983010T>C	GRCh37
NC_000007.12:g.22949535T>C	NCBI36
NG_008392.1:g.75761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.*2198A>G MANE Select	ENSP00000403396.2:n.*2198A>G
ENST00000440481.6:c.*2800A>G	ENSP00000397168.2:n.*2800A>G
ENST00000465661.2:n.1182+16865A>G
ENST00000679826.1:c.*2198A>G	ENSP00000505460.1:n.*2198A>G
ENST00000680721.1:n.3787A>G
ENST00000681237.1:c.*3420A>G	ENSP00000505270.1:n.*3420A>G
ENST00000681402.1:c.*3474A>G	ENSP00000506692.1:n.*3474A>G
ENST00000432176.6:c.*2198A>G	ENSP00000403396.2:n.*2198A>G
ENST00000440481.5:c.4215A>G
NM_032581.3:c.*2198A>G	NP_115970.2:n.*2198A>G
XM_005249894.3:c.*2800A>G	XP_005249951.1:n.*2800A>G
XM_006715799.2:c.*2198A>G	XP_006715862.1:n.*2198A>G
XM_011515589.1:c.*2198A>G	XP_011513891.1:n.*2198A>G
XM_011515590.1:c.991+16865A>G	XP_011513892.1:n.991+16865A>G
NM_001363466.1:c.*2800A>G	NP_001350395.1:n.*2800A>G
NM_001363467.1:c.*2758A>G	NP_001350396.1:n.*2758A>G
XM_011515589.2:c.*2198A>G	XP_011513891.1:n.*2198A>G
XM_011515590.2:c.991+16865A>G	XP_011513892.1:n.991+16865A>G
NM_001363466.2:c.*2800A>G	NP_001350395.1:n.*2800A>G
NM_001363467.2:c.*2758A>G	NP_001350396.1:n.*2758A>G
NM_032581.4:c.*2198A>G MANE Select	NP_115970.2:n.*2198A>G