Canonical Allele Identifier: CA10628889

Gene: HYCC1

Linked Data

• ClinVar Variation Id: 359722
• ClinVar RCV Id: RCV000343539
• dbSNP Id: rs142056277
• gnomAD v2: 7-22981717-T-A
• gnomAD v3: 7-22942098-T-A
• gnomAD v4: 7-22942098-T-A
• MyVariant Identifiers: chr7:g.22981717T>A (hg19) ; chr7:g.22942098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22942098T>A , CM000669.2:g.22942098T>A	GRCh38
NC_000007.13:g.22981717T>A , CM000669.1:g.22981717T>A	GRCh37
NC_000007.12:g.22948242T>A	NCBI36
NG_008392.1:g.77054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.*3491A>T MANE Select	ENSP00000403396.2:n.*3491A>T
ENST00000440481.6:c.*4093A>T	ENSP00000397168.2:n.*4093A>T
ENST00000465661.2:n.1182+18158A>T
ENST00000679826.1:c.*3491A>T	ENSP00000505460.1:n.*3491A>T
ENST00000680721.1:n.5080A>T
ENST00000681237.1:c.*4713A>T	ENSP00000505270.1:n.*4713A>T
ENST00000681402.1:c.*4767A>T	ENSP00000506692.1:n.*4767A>T
ENST00000432176.6:c.*3491A>T	ENSP00000403396.2:n.*3491A>T
ENST00000440481.5:c.5508A>T
NM_032581.3:c.*3491A>T	NP_115970.2:n.*3491A>T
XM_005249894.3:c.*4093A>T	XP_005249951.1:n.*4093A>T
XM_006715799.2:c.*3491A>T	XP_006715862.1:n.*3491A>T
XM_011515589.1:c.*3491A>T	XP_011513891.1:n.*3491A>T
XM_011515590.1:c.991+18158A>T	XP_011513892.1:n.991+18158A>T
NM_001363466.1:c.*4093A>T	NP_001350395.1:n.*4093A>T
NM_001363467.1:c.*4051A>T	NP_001350396.1:n.*4051A>T
XM_011515589.2:c.*3491A>T	XP_011513891.1:n.*3491A>T
XM_011515590.2:c.991+18158A>T	XP_011513892.1:n.991+18158A>T
NM_001363466.2:c.*4093A>T	NP_001350395.1:n.*4093A>T
NM_001363467.2:c.*4051A>T	NP_001350396.1:n.*4051A>T
NM_032581.4:c.*3491A>T MANE Select	NP_115970.2:n.*3491A>T