Canonical Allele Identifier: CA346671394

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877840T>G , CM000664.2:g.43877840T>G	GRCh38
NC_000002.11:g.44104979T>G , CM000664.1:g.44104979T>G	GRCh37
NC_000002.10:g.43958483T>G	NCBI36
NG_008884.1:g.43877T>G
NG_008884.2:g.50899T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1949T>G MANE Select	NP_071882.1:p.Leu650Arg
ENST00000272286.4:c.1949T>G MANE Select	ENSP00000272286.2:p.Leu650Arg
NM_001357321.1:c.1946T>G	NP_001344250.1:p.Leu649Arg
NM_001357321.2:c.1946T>G	NP_001344250.1:p.Leu649Arg
NM_022437.2:c.1949T>G	NP_071882.1:p.Leu650Arg
ENST00000272286.2:c.1949T>G	ENSP00000272286.2:p.Leu650Arg
XM_005264483.2:c.1946T>G	XP_005264540.1:p.Leu649Arg
XM_011533029.1:c.1961T>G	XP_011531331.1:p.Leu654Arg
XM_011533029.2:c.1961T>G	XP_011531331.1:p.Leu654Arg
XM_011533030.1:c.1958T>G	XP_011531332.1:p.Leu653Arg
XM_011533030.2:c.1958T>G	XP_011531332.1:p.Leu653Arg
XM_011533031.1:c.1733T>G	XP_011531333.1:p.Leu578Arg
XR_001738891.1:n.2465T>G
XR_939707.1:n.2451T>G
XR_939707.2:n.2465T>G