Canonical Allele Identifier: CA913189456

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 597093
• ClinVar RCV Id: RCV000733112 ; RCV003892659

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877785_43877786delinsAC , CM000664.2:g.43877785_43877786delinsAC	GRCh38
NC_000002.11:g.44104924_44104925delinsAC , CM000664.1:g.44104924_44104925delinsAC	GRCh37
NC_000002.10:g.43958428_43958429delinsAC	NCBI36
NG_008884.1:g.43822_43823delinsAC
NG_008884.2:g.50844_50845delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1894_1895delinsAC MANE Select	ENSP00000272286.2:p.Val632Thr
ENST00000272286.2:c.1894_1895delinsAC	ENSP00000272286.2:p.Val632Thr
NM_022437.2:c.1894_1895delinsAC	NP_071882.1:p.Val632Thr
XM_005264483.2:c.1891_1892delinsAC	XP_005264540.1:p.Val631Thr
XM_011533029.1:c.1906_1907delinsAC	XP_011531331.1:p.Val636Thr
XM_011533030.1:c.1903_1904delinsAC	XP_011531332.1:p.Val635Thr
XM_011533031.1:c.1678_1679delinsAC	XP_011531333.1:p.Val560Thr
XR_939707.1:n.2396_2397delinsAC
NM_001357321.1:c.1891_1892delinsAC	NP_001344250.1:p.Val631Thr
XM_011533029.2:c.1906_1907delinsAC	XP_011531331.1:p.Val636Thr
XM_011533030.2:c.1903_1904delinsAC	XP_011531332.1:p.Val635Thr
XR_001738891.1:n.2410_2411delinsAC
XR_939707.2:n.2410_2411delinsAC
NM_022437.3:c.1894_1895delinsAC MANE Select	NP_071882.1:p.Val632Thr
NM_001357321.2:c.1891_1892delinsAC	NP_001344250.1:p.Val631Thr