Canonical Allele Identifier: CA1637716
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs6544718
gnomAD v2: 2-44104925-T-G
gnomAD v3: 2-43877786-T-G
gnomAD v4: 2-43877786-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877786T>G , CM000664.2:g.43877786T>G GRCh38
NC_000002.11:g.44104925T>G , CM000664.1:g.44104925T>G GRCh37
NC_000002.10:g.43958429T>G NCBI36
NG_008884.1:g.43823T>G
NG_008884.2:g.50845T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.1895T>G MANE Select ENSP00000272286.2:p.Val632Gly
ENST00000272286.2:c.1895T>G ENSP00000272286.2:p.Val632Gly
NM_022437.2:c.1895T>G NP_071882.1:p.Val632Gly
XM_005264483.2:c.1892T>G XP_005264540.1:p.Val631Gly
XM_011533029.1:c.1907T>G XP_011531331.1:p.Val636Gly
XM_011533030.1:c.1904T>G XP_011531332.1:p.Val635Gly
XM_011533031.1:c.1679T>G XP_011531333.1:p.Val560Gly
XR_939707.1:n.2397T>G
NM_001357321.1:c.1892T>G NP_001344250.1:p.Val631Gly
XM_011533029.2:c.1907T>G XP_011531331.1:p.Val636Gly
XM_011533030.2:c.1904T>G XP_011531332.1:p.Val635Gly
XR_001738891.1:n.2411T>G
XR_939707.2:n.2411T>G
NM_022437.3:c.1895T>G MANE Select NP_071882.1:p.Val632Gly
NM_001357321.2:c.1892T>G NP_001344250.1:p.Val631Gly