Canonical Allele Identifier: CA46434711

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 3227784
• ClinVar RCV Id: RCV004517533
• dbSNP Id: rs370573461
• gnomAD v2: 2-44073391-T-C
• gnomAD v3: 2-43846252-T-C
• gnomAD v4: 2-43846252-T-C
• MyVariant Identifiers: chr2:g.44073391T>C (hg19) ; chr2:g.43846252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846252T>C , CM000664.2:g.43846252T>C	GRCh38
NC_000002.11:g.44073391T>C , CM000664.1:g.44073391T>C	GRCh37
NC_000002.10:g.43926895T>C	NCBI36
NG_008884.1:g.12289T>C
NG_008884.2:g.19311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.263T>C MANE Select	ENSP00000272286.2:p.Ile88Thr
ENST00000643284.1:n.720T>C
ENST00000644611.1:c.275T>C	ENSP00000495423.1:p.Ile92Thr
ENST00000272286.2:c.263T>C	ENSP00000272286.2:p.Ile88Thr
NM_022437.2:c.263T>C	NP_071882.1:p.Ile88Thr
XM_005264483.2:c.263T>C	XP_005264540.1:p.Ile88Thr
XM_011533029.1:c.275T>C	XP_011531331.1:p.Ile92Thr
XM_011533030.1:c.275T>C	XP_011531332.1:p.Ile92Thr
XM_011533031.1:c.47T>C	XP_011531333.1:p.Ile16Thr
XR_939707.1:n.765T>C
NM_001357321.1:c.263T>C	NP_001344250.1:p.Ile88Thr
XM_011533029.2:c.275T>C	XP_011531331.1:p.Ile92Thr
XM_011533030.2:c.275T>C	XP_011531332.1:p.Ile92Thr
XR_001738891.1:n.779T>C
XR_939707.2:n.779T>C
NM_022437.3:c.263T>C MANE Select	NP_071882.1:p.Ile88Thr
NM_001357321.2:c.263T>C	NP_001344250.1:p.Ile88Thr