Canonical Allele Identifier: CA346665264

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43851647C>G , CM000664.2:g.43851647C>G	GRCh38
NC_000002.11:g.44078786C>G , CM000664.1:g.44078786C>G	GRCh37
NC_000002.10:g.43932290C>G	NCBI36
NG_008884.1:g.17684C>G
NG_008884.2:g.24706C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.386C>G MANE Select	NP_071882.1:p.Ser129Ter
ENST00000272286.4:c.386C>G MANE Select	ENSP00000272286.2:p.Ser129Ter
NM_001357321.1:c.386C>G	NP_001344250.1:p.Ser129Ter
NM_001357321.2:c.386C>G	NP_001344250.1:p.Ser129Ter
NM_022437.2:c.386C>G	NP_071882.1:p.Ser129Ter
ENST00000272286.2:c.386C>G	ENSP00000272286.2:p.Ser129Ter
ENST00000644611.1:c.398C>G	ENSP00000495423.1:p.Ser133Ter
XM_005264483.2:c.386C>G	XP_005264540.1:p.Ser129Ter
XM_011533029.1:c.398C>G	XP_011531331.1:p.Ser133Ter
XM_011533029.2:c.398C>G	XP_011531331.1:p.Ser133Ter
XM_011533030.1:c.398C>G	XP_011531332.1:p.Ser133Ter
XM_011533030.2:c.398C>G	XP_011531332.1:p.Ser133Ter
XM_011533031.1:c.170C>G	XP_011531333.1:p.Ser57Ter
XR_001738891.1:n.902C>G
XR_939707.1:n.888C>G
XR_939707.2:n.902C>G