Canonical Allele Identifier: CA346671455

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 3025488
• ClinVar RCV Id: RCV003884876
• dbSNP Id: rs1451433637
• gnomAD v2: 2-44104995-G-C
• gnomAD v4: 2-43877856-G-C
• MyVariant Identifiers: chr2:g.44104995G>C (hg19) ; chr2:g.43877856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877856G>C , CM000664.2:g.43877856G>C	GRCh38
NC_000002.11:g.44104995G>C , CM000664.1:g.44104995G>C	GRCh37
NC_000002.10:g.43958499G>C	NCBI36
NG_008884.1:g.43893G>C
NG_008884.2:g.50915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1965G>C MANE Select	ENSP00000272286.2:p.Met655Ile
ENST00000272286.2:c.1965G>C	ENSP00000272286.2:p.Met655Ile
NM_022437.2:c.1965G>C	NP_071882.1:p.Met655Ile
XM_005264483.2:c.1962G>C	XP_005264540.1:p.Met654Ile
XM_011533029.1:c.1977G>C	XP_011531331.1:p.Met659Ile
XM_011533030.1:c.1974G>C	XP_011531332.1:p.Met658Ile
XM_011533031.1:c.1749G>C	XP_011531333.1:p.Met583Ile
XR_939707.1:n.2467G>C
NM_001357321.1:c.1962G>C	NP_001344250.1:p.Met654Ile
XM_011533029.2:c.1977G>C	XP_011531331.1:p.Met659Ile
XM_011533030.2:c.1974G>C	XP_011531332.1:p.Met658Ile
XR_001738891.1:n.2481G>C
XR_939707.2:n.2481G>C
NM_022437.3:c.1965G>C MANE Select	NP_071882.1:p.Met655Ile
NM_001357321.2:c.1962G>C	NP_001344250.1:p.Met654Ile