Canonical Allele Identifier: CA4186056

Gene: HYCC1

Linked Data

• ClinVar Variation Id: 377197
• ClinVar RCV Id: RCV000441549 ; RCV000764705
• dbSNP Id: rs780427026
• ExAC: 7:23017919 A / G
• gnomAD v2: 7-23017919-A-G
• gnomAD v3: 7-22978300-A-G
• gnomAD v4: 7-22978300-A-G
• MyVariant Identifiers: chr7:g.23017919A>G (hg19) ; chr7:g.22978300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22978300A>G , CM000669.2:g.22978300A>G	GRCh38
NC_000007.13:g.23017919A>G , CM000669.1:g.23017919A>G	GRCh37
NC_000007.12:g.22984444A>G	NCBI36
NG_008392.1:g.40852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432176.7:c.302T>C MANE Select	ENSP00000403396.2:p.Ile101Thr
ENST00000440481.6:c.-131T>C	ENSP00000397168.2:n.-131T>C
ENST00000465661.2:n.493T>C
ENST00000679789.1:c.302T>C	ENSP00000506308.1:p.Ile101Thr
ENST00000679826.1:c.-131T>C	ENSP00000505460.1:n.-131T>C
ENST00000681079.1:c.302T>C	ENSP00000506370.1:p.Ile101Thr
ENST00000681237.1:c.149-879T>C	ENSP00000505270.1:n.149-879T>C
ENST00000681402.1:c.*12T>C	ENSP00000506692.1:n.*12T>C
ENST00000681766.1:c.302T>C	ENSP00000505161.1:p.Ile101Thr
ENST00000409763.1:c.302T>C	ENSP00000386624.1:p.Ile101Thr
ENST00000409923.5:c.302T>C	ENSP00000386246.1:p.Ile101Thr
ENST00000432176.6:c.302T>C	ENSP00000403396.2:p.Ile101Thr
ENST00000440481.5:c.457T>C
ENST00000477349.5:n.392T>C
NM_032581.3:c.302T>C	NP_115970.2:p.Ile101Thr
XM_005249894.3:c.302T>C	XP_005249951.1:p.Ile101Thr
XM_005249895.1:c.302T>C	XP_005249952.1:p.Ile101Thr
XM_011515589.1:c.302T>C	XP_011513891.1:p.Ile101Thr
XM_011515590.1:c.302T>C	XP_011513892.1:p.Ile101Thr
NM_001363466.1:c.302T>C	NP_001350395.1:p.Ile101Thr
NM_001363467.1:c.302T>C	NP_001350396.1:p.Ile101Thr
XM_011515589.2:c.302T>C	XP_011513891.1:p.Ile101Thr
XM_011515590.2:c.302T>C	XP_011513892.1:p.Ile101Thr
NM_001363466.2:c.302T>C	NP_001350395.1:p.Ile101Thr
NM_001363467.2:c.302T>C	NP_001350396.1:p.Ile101Thr
NM_032581.4:c.302T>C MANE Select	NP_115970.2:p.Ile101Thr