Canonical Allele Identifier: CA1637468

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43874468A>G , CM000664.2:g.43874468A>G	GRCh38
NC_000002.11:g.44101607A>G , CM000664.1:g.44101607A>G	GRCh37
NC_000002.10:g.43955111A>G	NCBI36
NG_008884.1:g.40505A>G
NG_008884.2:g.47527A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1473A>G MANE Select	NP_071882.1:p.Pro491=
ENST00000272286.4:c.1473A>G MANE Select	ENSP00000272286.2:p.Pro491=
NM_001357321.1:c.1470A>G	NP_001344250.1:p.Pro490=
NM_001357321.2:c.1470A>G	NP_001344250.1:p.Pro490=
NM_022437.2:c.1473A>G	NP_071882.1:p.Pro491=
ENST00000272286.2:c.1473A>G	ENSP00000272286.2:p.Pro491=
XM_005264483.2:c.1470A>G	XP_005264540.1:p.Pro490=
XM_011533029.1:c.1485A>G	XP_011531331.1:p.Pro495=
XM_011533029.2:c.1485A>G	XP_011531331.1:p.Pro495=
XM_011533030.1:c.1482A>G	XP_011531332.1:p.Pro494=
XM_011533030.2:c.1482A>G	XP_011531332.1:p.Pro494=
XM_011533031.1:c.1257A>G	XP_011531333.1:p.Pro419=
XR_001738891.1:n.1989A>G
XR_939707.1:n.1975A>G
XR_939707.2:n.1989A>G