Canonical Allele Identifier: CA10650252

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323480
• ClinVar RCV Id: RCV000311970 ; RCV000351437 ; RCV000391528
• dbSNP Id: rs886052990
• gnomAD v2: 17-42326230-T-G
• gnomAD v3: 17-44248862-T-G
• gnomAD v4: 17-44248862-T-G
• MyVariant Identifiers: chr17:g.42326230T>G (hg19) ; chr17:g.44248862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44248862T>G , CM000679.2:g.44248862T>G	GRCh38
NC_000017.10:g.42326230T>G , CM000679.1:g.42326230T>G	GRCh37
NC_000017.9:g.39681756T>G	NCBI36
NG_007498.1:g.24273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1596A>C MANE Select	ENSP00000262418.6:n.*1596A>C
ENST00000262418.10:c.*1596A>C	ENSP00000262418.6:n.*1596A>C
ENST00000399246.3:c.*1596A>C	ENSP00000382190.3:n.*1596A>C
ENST00000631130.1:c.*232A>C	ENSP00000486787.1:n.*232A>C
NM_000342.3:c.*1596A>C	NP_000333.1:n.*1596A>C
XM_005257593.3:c.*1596A>C	XP_005257650.1:n.*1596A>C
XM_011525129.1:c.*1596A>C	XP_011523431.1:n.*1596A>C
NM_000342.4:c.*1596A>C MANE Select	NP_000333.1:n.*1596A>C