Canonical Allele Identifier: CA46432629

Gene: ABCG8

Linked Data

• dbSNP Id: rs1000291485
• MyVariant Identifiers: chr2:g.44071702C>G (hg19) ; chr2:g.43844563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844563C>G , CM000664.2:g.43844563C>G	GRCh38
NC_000002.11:g.44071702C>G , CM000664.1:g.44071702C>G	GRCh37
NC_000002.10:g.43925206C>G	NCBI36
NG_008884.1:g.10600C>G
NG_008884.2:g.17622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.120C>G MANE Select	ENSP00000272286.2:p.Tyr40Ter
ENST00000643284.1:n.577C>G
ENST00000644611.1:c.132C>G	ENSP00000495423.1:p.Tyr44Ter
ENST00000272286.2:c.120C>G	ENSP00000272286.2:p.Tyr40Ter
NM_022437.2:c.120C>G	NP_071882.1:p.Tyr40Ter
XM_005264483.2:c.120C>G	XP_005264540.1:p.Tyr40Ter
XM_011533029.1:c.132C>G	XP_011531331.1:p.Tyr44Ter
XM_011533030.1:c.132C>G	XP_011531332.1:p.Tyr44Ter
XM_011533031.1:c.-97C>G	XP_011531333.1:n.-97C>G
XR_939707.1:n.622C>G
NM_001357321.1:c.120C>G	NP_001344250.1:p.Tyr40Ter
XM_011533029.2:c.132C>G	XP_011531331.1:p.Tyr44Ter
XM_011533030.2:c.132C>G	XP_011531332.1:p.Tyr44Ter
XR_001738891.1:n.636C>G
XR_939707.2:n.636C>G
NM_022437.3:c.120C>G MANE Select	NP_071882.1:p.Tyr40Ter
NM_001357321.2:c.120C>G	NP_001344250.1:p.Tyr40Ter