Canonical Allele Identifier: CA10628771

Gene: HYCC1

Linked Data

• ClinVar Variation Id: 359739
• ClinVar RCV Id: RCV000325292
• dbSNP Id: rs77738949
• gnomAD v2: 7-22983239-C-T
• gnomAD v3: 7-22943620-C-T
• gnomAD v4: 7-22943620-C-T
• MyVariant Identifiers: chr7:g.22983239C>T (hg19) ; chr7:g.22943620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22943620C>T , CM000669.2:g.22943620C>T	GRCh38
NC_000007.13:g.22983239C>T , CM000669.1:g.22983239C>T	GRCh37
NC_000007.12:g.22949764C>T	NCBI36
NG_008392.1:g.75532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.*1969G>A MANE Select	ENSP00000403396.2:n.*1969G>A
ENST00000440481.6:c.*2571G>A	ENSP00000397168.2:n.*2571G>A
ENST00000465661.2:n.1182+16636G>A
ENST00000679826.1:c.*1969G>A	ENSP00000505460.1:n.*1969G>A
ENST00000680721.1:n.3558G>A
ENST00000681237.1:c.*3191G>A	ENSP00000505270.1:n.*3191G>A
ENST00000681402.1:c.*3245G>A	ENSP00000506692.1:n.*3245G>A
ENST00000432176.6:c.*1969G>A	ENSP00000403396.2:n.*1969G>A
ENST00000440481.5:c.3986G>A
NM_032581.3:c.*1969G>A	NP_115970.2:n.*1969G>A
XM_005249894.3:c.*2571G>A	XP_005249951.1:n.*2571G>A
XM_006715799.2:c.*1969G>A	XP_006715862.1:n.*1969G>A
XM_011515589.1:c.*1969G>A	XP_011513891.1:n.*1969G>A
XM_011515590.1:c.991+16636G>A	XP_011513892.1:n.991+16636G>A
NM_001363466.1:c.*2571G>A	NP_001350395.1:n.*2571G>A
NM_001363467.1:c.*2529G>A	NP_001350396.1:n.*2529G>A
XM_011515589.2:c.*1969G>A	XP_011513891.1:n.*1969G>A
XM_011515590.2:c.991+16636G>A	XP_011513892.1:n.991+16636G>A
NM_001363466.2:c.*2571G>A	NP_001350395.1:n.*2571G>A
NM_001363467.2:c.*2529G>A	NP_001350396.1:n.*2529G>A
NM_032581.4:c.*1969G>A MANE Select	NP_115970.2:n.*1969G>A