Canonical Allele Identifier: CA425749210

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1149610
• ClinVar RCV Id: RCV001489910 ; RCV003331168
• dbSNP Id: rs1226302403
• gnomAD v2: 2-44066204-G-A
• gnomAD v4: 2-43839065-G-A
• MyVariant Identifiers: chr2:g.44066204G>A (hg19) ; chr2:g.43839065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839065G>A , CM000664.2:g.43839065G>A	GRCh38
NC_000002.11:g.44066204G>A , CM000664.1:g.44066204G>A	GRCh37
NC_000002.10:g.43919708G>A	NCBI36
NG_008883.1:g.4755C>T
NG_008884.1:g.5102G>A
NG_008884.2:g.12124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.12G>A MANE Select	ENSP00000272286.2:p.Lys4=
ENST00000643284.1:n.521-5442G>A
ENST00000644611.1:c.76-5442G>A	ENSP00000495423.1:n.76-5442G>A
ENST00000272286.2:c.12G>A	ENSP00000272286.2:p.Lys4=
NM_022437.2:c.12G>A	NP_071882.1:p.Lys4=
XM_005264483.2:c.12G>A	XP_005264540.1:p.Lys4=
XM_011533029.1:c.76-5442G>A	XP_011531331.1:n.76-5442G>A
XM_011533030.1:c.76-5442G>A	XP_011531332.1:n.76-5442G>A
XM_011533031.1:c.-153-5442G>A	XP_011531333.1:n.-153-5442G>A
XR_939707.1:n.566-5442G>A
NM_001357321.1:c.12G>A	NP_001344250.1:p.Lys4=
XM_011533029.2:c.76-5442G>A	XP_011531331.1:n.76-5442G>A
XM_011533030.2:c.76-5442G>A	XP_011531332.1:n.76-5442G>A
XR_001738891.1:n.580-5442G>A
XR_939707.2:n.580-5442G>A
NM_022437.3:c.12G>A MANE Select	NP_071882.1:p.Lys4=
NM_001357321.2:c.12G>A	NP_001344250.1:p.Lys4=