Canonical Allele Identifier: CA1637157

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852626C>T , CM000664.2:g.43852626C>T	GRCh38
NC_000002.11:g.44079765C>T , CM000664.1:g.44079765C>T	GRCh37
NC_000002.10:g.43933269C>T	NCBI36
NG_008884.1:g.18663C>T
NG_008884.2:g.25685C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.722C>T MANE Select	NP_071882.1:p.Ser241Phe
ENST00000272286.4:c.722C>T MANE Select	ENSP00000272286.2:p.Ser241Phe
NM_001357321.1:c.722C>T	NP_001344250.1:p.Ser241Phe
NM_001357321.2:c.722C>T	NP_001344250.1:p.Ser241Phe
NM_022437.2:c.722C>T	NP_071882.1:p.Ser241Phe
ENST00000272286.2:c.722C>T	ENSP00000272286.2:p.Ser241Phe
ENST00000644611.1:c.734C>T	ENSP00000495423.1:p.Ser245Phe
XM_005264483.2:c.722C>T	XP_005264540.1:p.Ser241Phe
XM_011533029.1:c.734C>T	XP_011531331.1:p.Ser245Phe
XM_011533029.2:c.734C>T	XP_011531331.1:p.Ser245Phe
XM_011533030.1:c.734C>T	XP_011531332.1:p.Ser245Phe
XM_011533030.2:c.734C>T	XP_011531332.1:p.Ser245Phe
XM_011533031.1:c.506C>T	XP_011531333.1:p.Ser169Phe
XR_001738891.1:n.1238C>T
XR_939707.1:n.1224C>T
XR_939707.2:n.1238C>T