Canonical Allele Identifier: CA2658838087
Gene: ABCG8 HGNC NCBI

Linked Data

gnomAD v4: 2-43877731-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877731G>C , CM000664.2:g.43877731G>C GRCh38
NC_000002.11:g.44104870G>C , CM000664.1:g.44104870G>C GRCh37
NC_000002.10:g.43958374G>C NCBI36
NG_008884.1:g.43768G>C
NG_008884.2:g.50790G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1884+43G>C MANE Select ENSP00000272286.2:n.1884+43G>C
ENST00000272286.2:c.1884+43G>C ENSP00000272286.2:n.1884+43G>C
NM_022437.2:c.1884+43G>C NP_071882.1:n.1884+43G>C
XM_005264483.2:c.1881+43G>C XP_005264540.1:n.1881+43G>C
XM_011533029.1:c.1896+43G>C XP_011531331.1:n.1896+43G>C
XM_011533030.1:c.1893+43G>C XP_011531332.1:n.1893+43G>C
XM_011533031.1:c.1668+43G>C XP_011531333.1:n.1668+43G>C
XR_939707.1:n.2386+43G>C
NM_001357321.1:c.1881+43G>C NP_001344250.1:n.1881+43G>C
XM_011533029.2:c.1896+43G>C XP_011531331.1:n.1896+43G>C
XM_011533030.2:c.1893+43G>C XP_011531332.1:n.1893+43G>C
XR_001738891.1:n.2400+43G>C
XR_939707.2:n.2400+43G>C
NM_022437.3:c.1884+43G>C MANE Select NP_071882.1:n.1884+43G>C
NM_001357321.2:c.1881+43G>C NP_001344250.1:n.1881+43G>C