Canonical Allele Identifier: CA346663627

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2183921
• ClinVar RCV Id: RCV002599858
• dbSNP Id: rs1668740293
• gnomAD v3: 2-43846271-A-C
• gnomAD v4: 2-43846271-A-C
• MyVariant Identifiers: chr2:g.44073410A>C (hg19) ; chr2:g.43846271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846271A>C , CM000664.2:g.43846271A>C	GRCh38
NC_000002.11:g.44073410A>C , CM000664.1:g.44073410A>C	GRCh37
NC_000002.10:g.43926914A>C	NCBI36
NG_008884.1:g.12308A>C
NG_008884.2:g.19330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.282A>C MANE Select	ENSP00000272286.2:p.Lys94Asn
ENST00000643284.1:n.739A>C
ENST00000644611.1:c.294A>C	ENSP00000495423.1:p.Lys98Asn
ENST00000272286.2:c.282A>C	ENSP00000272286.2:p.Lys94Asn
NM_022437.2:c.282A>C	NP_071882.1:p.Lys94Asn
XM_005264483.2:c.282A>C	XP_005264540.1:p.Lys94Asn
XM_011533029.1:c.294A>C	XP_011531331.1:p.Lys98Asn
XM_011533030.1:c.294A>C	XP_011531332.1:p.Lys98Asn
XM_011533031.1:c.66A>C	XP_011531333.1:p.Lys22Asn
XR_939707.1:n.784A>C
NM_001357321.1:c.282A>C	NP_001344250.1:p.Lys94Asn
XM_011533029.2:c.294A>C	XP_011531331.1:p.Lys98Asn
XM_011533030.2:c.294A>C	XP_011531332.1:p.Lys98Asn
XR_001738891.1:n.798A>C
XR_939707.2:n.798A>C
NM_022437.3:c.282A>C MANE Select	NP_071882.1:p.Lys94Asn
NM_001357321.2:c.282A>C	NP_001344250.1:p.Lys94Asn