Canonical Allele Identifier: CA1637577
Gene: ABCG8 HGNC NCBI
COSMIC:
COSM278557
MyVariant.info:
GRCh38 chr2:g.43875305G>A
GRCh37 chr2:g.44102444G>A
Revel Score:
ENST00000272286 (MANE Select) 0.253
gnomAD v2:
2:44102444 G / A
gnomAD v3:
2:43875305 G / A
gnomAD v4:
chr2-43875305-G-A
Joint Max Group AF 0.00054168 (MID)
Genomes Max Group AF 0.00026003 (AMR)
Exomes Max Group AF 0.00056862 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875305G>A , CM000664.2:g.43875305G>A GRCh38
NC_000002.11:g.44102444G>A , CM000664.1:g.44102444G>A GRCh37
NC_000002.10:g.43955948G>A NCBI36
NG_008884.1:g.41342G>A
NG_008884.2:g.48364G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1648G>A MANE Select ENSP00000272286.2:p.Ala550Thr
ENST00000272286.2:c.1648G>A ENSP00000272286.2:p.Ala550Thr
NM_022437.2:c.1648G>A NP_071882.1:p.Ala550Thr
XM_005264483.2:c.1645G>A XP_005264540.1:p.Ala549Thr
XM_011533029.1:c.1660G>A XP_011531331.1:p.Ala554Thr
XM_011533030.1:c.1657G>A XP_011531332.1:p.Ala553Thr
XM_011533031.1:c.1432G>A XP_011531333.1:p.Ala478Thr
XR_939707.1:n.2150G>A
NM_001357321.1:c.1645G>A NP_001344250.1:p.Ala549Thr
XM_011533029.2:c.1660G>A XP_011531331.1:p.Ala554Thr
XM_011533030.2:c.1657G>A XP_011531332.1:p.Ala553Thr
XR_001738891.1:n.2164G>A
XR_939707.2:n.2164G>A
NM_022437.3:c.1648G>A MANE Select NP_071882.1:p.Ala550Thr
NM_001357321.2:c.1645G>A NP_001344250.1:p.Ala549Thr
Search 100 bp 5'
Search 100 bp 3'