Canonical Allele Identifier: CA2638189493

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249290-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249290T>C , CM000679.2:g.44249290T>C	GRCh38
NC_000017.10:g.42326658T>C , CM000679.1:g.42326658T>C	GRCh37
NC_000017.9:g.39682184T>C	NCBI36
NG_007498.1:g.23845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1168A>G MANE Select	ENSP00000262418.6:n.*1168A>G
ENST00000262418.10:c.*1168A>G	ENSP00000262418.6:n.*1168A>G
ENST00000399246.3:c.*1168A>G	ENSP00000382190.3:n.*1168A>G
ENST00000631130.1:c.-86A>G	ENSP00000486787.1:n.-86A>G
NM_000342.3:c.*1168A>G	NP_000333.1:n.*1168A>G
XM_005257593.3:c.*1168A>G	XP_005257650.1:n.*1168A>G
XM_011525129.1:c.*1168A>G	XP_011523431.1:n.*1168A>G
NM_000342.4:c.*1168A>G MANE Select	NP_000333.1:n.*1168A>G