Canonical Allele Identifier: CA399782628

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1320485974
• gnomAD v4: 17-44254520-A-G
• MyVariant Identifiers: chr17:g.42331888A>G (hg19) ; chr17:g.44254520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254520A>G , CM000679.2:g.44254520A>G	GRCh38
NC_000017.10:g.42331888A>G , CM000679.1:g.42331888A>G	GRCh37
NC_000017.9:g.39687414A>G	NCBI36
NG_007498.1:g.18615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2033T>C MANE Select	ENSP00000262418.6:p.Ile678Thr
ENST00000262418.10:c.2033T>C	ENSP00000262418.6:p.Ile678Thr
ENST00000399246.3:c.935T>C	ENSP00000382190.3:p.Ile312Thr
NM_000342.3:c.2033T>C	NP_000333.1:p.Ile678Thr
XM_005257593.3:c.1838T>C	XP_005257650.1:p.Ile613Thr
XM_011525129.1:c.1943T>C	XP_011523431.1:p.Ile648Thr
XM_011525130.1:c.2033T>C	XP_011523432.1:p.Ile678Thr
XM_011525131.1:c.2033T>C	XP_011523433.1:p.Ile678Thr
XM_005257593.5:c.1838T>C	XP_005257650.1:p.Ile613Thr
XM_011525129.2:c.1943T>C	XP_011523431.1:p.Ile648Thr
NM_000342.4:c.2033T>C MANE Select	NP_000333.1:p.Ile678Thr