Canonical Allele Identifier: CA1637665

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877589C>T , CM000664.2:g.43877589C>T	GRCh38
NC_000002.11:g.44104728C>T , CM000664.1:g.44104728C>T	GRCh37
NC_000002.10:g.43958232C>T	NCBI36
NG_008884.1:g.43626C>T
NG_008884.2:g.50648C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1785C>T MANE Select	NP_071882.1:p.Phe595=
ENST00000272286.4:c.1785C>T MANE Select	ENSP00000272286.2:p.Phe595=
NM_001357321.1:c.1782C>T	NP_001344250.1:p.Phe594=
NM_001357321.2:c.1782C>T	NP_001344250.1:p.Phe594=
NM_022437.2:c.1785C>T	NP_071882.1:p.Phe595=
ENST00000272286.2:c.1785C>T	ENSP00000272286.2:p.Phe595=
XM_005264483.2:c.1782C>T	XP_005264540.1:p.Phe594=
XM_011533029.1:c.1797C>T	XP_011531331.1:p.Phe599=
XM_011533029.2:c.1797C>T	XP_011531331.1:p.Phe599=
XM_011533030.1:c.1794C>T	XP_011531332.1:p.Phe598=
XM_011533030.2:c.1794C>T	XP_011531332.1:p.Phe598=
XM_011533031.1:c.1569C>T	XP_011531333.1:p.Phe523=
XR_001738891.1:n.2301C>T
XR_939707.1:n.2287C>T
XR_939707.2:n.2301C>T