Canonical Allele Identifier: CA346663449

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073329G>C (hg19) ; chr2:g.43846190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846190G>C , CM000664.2:g.43846190G>C	GRCh38
NC_000002.11:g.44073329G>C , CM000664.1:g.44073329G>C	GRCh37
NC_000002.10:g.43926833G>C	NCBI36
NG_008884.1:g.12227G>C
NG_008884.2:g.19249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.201G>C MANE Select	ENSP00000272286.2:p.Gln67His
ENST00000643284.1:n.658G>C
ENST00000644611.1:c.213G>C	ENSP00000495423.1:p.Gln71His
ENST00000272286.2:c.201G>C	ENSP00000272286.2:p.Gln67His
NM_022437.2:c.201G>C	NP_071882.1:p.Gln67His
XM_005264483.2:c.201G>C	XP_005264540.1:p.Gln67His
XM_011533029.1:c.213G>C	XP_011531331.1:p.Gln71His
XM_011533030.1:c.213G>C	XP_011531332.1:p.Gln71His
XM_011533031.1:c.-16G>C	XP_011531333.1:n.-16G>C
XR_939707.1:n.703G>C
NM_001357321.1:c.201G>C	NP_001344250.1:p.Gln67His
XM_011533029.2:c.213G>C	XP_011531331.1:p.Gln71His
XM_011533030.2:c.213G>C	XP_011531332.1:p.Gln71His
XR_001738891.1:n.717G>C
XR_939707.2:n.717G>C
NM_022437.3:c.201G>C MANE Select	NP_071882.1:p.Gln67His
NM_001357321.2:c.201G>C	NP_001344250.1:p.Gln67His