Canonical Allele Identifier: CA425908257

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 642770
• ClinVar RCV Id: RCV000796296
• dbSNP Id: rs1333721350
• gnomAD v4: 2-43877670-C-A
• MyVariant Identifiers: chr2:g.44104809C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877670C>A , CM000664.2:g.43877670C>A	GRCh38
NC_000002.11:g.44104809C>A , CM000664.1:g.44104809C>A	GRCh37
NC_000002.10:g.43958313C>A	NCBI36
NG_008884.1:g.43707C>A
NG_008884.2:g.50729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1866C>A MANE Select	ENSP00000272286.2:p.Ile622=
ENST00000272286.2:c.1866C>A	ENSP00000272286.2:p.Ile622=
NM_022437.2:c.1866C>A	NP_071882.1:p.Ile622=
XM_005264483.2:c.1863C>A	XP_005264540.1:p.Ile621=
XM_011533029.1:c.1878C>A	XP_011531331.1:p.Ile626=
XM_011533030.1:c.1875C>A	XP_011531332.1:p.Ile625=
XM_011533031.1:c.1650C>A	XP_011531333.1:p.Ile550=
XR_939707.1:n.2368C>A
NM_001357321.1:c.1863C>A	NP_001344250.1:p.Ile621=
XM_011533029.2:c.1878C>A	XP_011531331.1:p.Ile626=
XM_011533030.2:c.1875C>A	XP_011531332.1:p.Ile625=
XR_001738891.1:n.2382C>A
XR_939707.2:n.2382C>A
NM_022437.3:c.1866C>A MANE Select	NP_071882.1:p.Ile622=
NM_001357321.2:c.1863C>A	NP_001344250.1:p.Ile621=