Canonical Allele Identifier: CA4185717

Gene: HYCC1

Linked Data

• ClinVar Variation Id: 359770
• ClinVar RCV Id: RCV000306247 ; RCV001509297 ; RCV004022042
• dbSNP Id: rs151228394
• ExAC: 7:22985294 C / T
• gnomAD v2: 7-22985294-C-T
• gnomAD v3: 7-22945675-C-T
• gnomAD v4: 7-22945675-C-T
• MyVariant Identifiers: chr7:g.22985294C>T (hg19) ; chr7:g.22945675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22945675C>T , CM000669.2:g.22945675C>T	GRCh38
NC_000007.13:g.22985294C>T , CM000669.1:g.22985294C>T	GRCh37
NC_000007.12:g.22951819C>T	NCBI36
NG_008392.1:g.73477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.1480G>A MANE Select	ENSP00000403396.2:p.Val494Ile
ENST00000440481.6:c.*516G>A	ENSP00000397168.2:n.*516G>A
ENST00000465661.2:n.1182+14581G>A
ENST00000679789.1:c.*633G>A	ENSP00000506308.1:n.*633G>A
ENST00000679826.1:c.1048G>A	ENSP00000505460.1:p.Val350Ile
ENST00000680721.1:n.1503G>A
ENST00000681079.1:c.*633G>A	ENSP00000506370.1:n.*633G>A
ENST00000681237.1:c.*1136G>A	ENSP00000505270.1:n.*1136G>A
ENST00000681402.1:c.*1190G>A	ENSP00000506692.1:n.*1190G>A
ENST00000681766.1:c.1426G>A	ENSP00000505161.1:p.Val476Ile
ENST00000409923.5:c.*516G>A	ENSP00000386246.1:n.*516G>A
ENST00000432176.6:c.1480G>A	ENSP00000403396.2:p.Val494Ile
ENST00000440481.5:c.1931G>A
NM_032581.3:c.1480G>A	NP_115970.2:p.Val494Ile
XM_005249894.3:c.*516G>A	XP_005249951.1:n.*516G>A
XM_006715799.2:c.955G>A	XP_006715862.1:p.Val319Ile
XM_011515589.1:c.1480G>A	XP_011513891.1:p.Val494Ile
XM_011515590.1:c.991+14581G>A	XP_011513892.1:n.991+14581G>A
NM_001363466.1:c.*516G>A	NP_001350395.1:n.*516G>A
NM_001363467.1:c.*474G>A	NP_001350396.1:n.*474G>A
XM_011515589.2:c.1480G>A	XP_011513891.1:p.Val494Ile
XM_011515590.2:c.991+14581G>A	XP_011513892.1:n.991+14581G>A
NM_001363466.2:c.*516G>A	NP_001350395.1:n.*516G>A
NM_001363467.2:c.*474G>A	NP_001350396.1:n.*474G>A
NM_032581.4:c.1480G>A MANE Select	NP_115970.2:p.Val494Ile