Canonical Allele Identifier: CA1637418

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873961C>T , CM000664.2:g.43873961C>T	GRCh38
NC_000002.11:g.44101100C>T , CM000664.1:g.44101100C>T	GRCh37
NC_000002.10:g.43954604C>T	NCBI36
NG_008884.1:g.39998C>T
NG_008884.2:g.47020C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1386C>T MANE Select	NP_071882.1:p.Asn462=
ENST00000272286.4:c.1386C>T MANE Select	ENSP00000272286.2:p.Asn462=
NM_001357321.1:c.1383C>T	NP_001344250.1:p.Asn461=
NM_001357321.2:c.1383C>T	NP_001344250.1:p.Asn461=
NM_022437.2:c.1386C>T	NP_071882.1:p.Asn462=
ENST00000272286.2:c.1386C>T	ENSP00000272286.2:p.Asn462=
XM_005264483.2:c.1383C>T	XP_005264540.1:p.Asn461=
XM_011533029.1:c.1398C>T	XP_011531331.1:p.Asn466=
XM_011533029.2:c.1398C>T	XP_011531331.1:p.Asn466=
XM_011533030.1:c.1395C>T	XP_011531332.1:p.Asn465=
XM_011533030.2:c.1395C>T	XP_011531332.1:p.Asn465=
XM_011533031.1:c.1170C>T	XP_011531333.1:p.Asn390=
XR_001738891.1:n.1902C>T
XR_939707.1:n.1888C>T
XR_939707.2:n.1902C>T