Canonical Allele Identifier: CA2658838257

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878127-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878127T>C , CM000664.2:g.43878127T>C	GRCh38
NC_000002.11:g.44105266T>C , CM000664.1:g.44105266T>C	GRCh37
NC_000002.10:g.43958770T>C	NCBI36
NG_008884.1:g.44164T>C
NG_008884.2:g.51186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*214T>C MANE Select	ENSP00000272286.2:n.*214T>C
ENST00000272286.2:c.*214T>C	ENSP00000272286.2:n.*214T>C
NM_022437.2:c.*214T>C	NP_071882.1:n.*214T>C
XM_005264483.2:c.*214T>C	XP_005264540.1:n.*214T>C
XM_011533029.1:c.*214T>C	XP_011531331.1:n.*214T>C
XM_011533030.1:c.*214T>C	XP_011531332.1:n.*214T>C
XM_011533031.1:c.*214T>C	XP_011531333.1:n.*214T>C
XR_939707.1:n.2738T>C
NM_001357321.1:c.*214T>C	NP_001344250.1:n.*214T>C
XM_011533029.2:c.*214T>C	XP_011531331.1:n.*214T>C
XM_011533030.2:c.*214T>C	XP_011531332.1:n.*214T>C
XR_001738891.1:n.2752T>C
XR_939707.2:n.2752T>C
NM_022437.3:c.*214T>C MANE Select	NP_071882.1:n.*214T>C
NM_001357321.2:c.*214T>C	NP_001344250.1:n.*214T>C