Canonical Allele Identifier: CA2594317457

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2144593254
• gnomAD v3: 17-44249756-G-A
• gnomAD v4: 17-44249756-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249756G>A , CM000679.2:g.44249756G>A	GRCh38
NC_000017.10:g.42327124G>A , CM000679.1:g.42327124G>A	GRCh37
NC_000017.9:g.39682650G>A	NCBI36
NG_007498.1:g.23379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*702C>T MANE Select	ENSP00000262418.6:n.*702C>T
ENST00000262418.10:c.*702C>T	ENSP00000262418.6:n.*702C>T
ENST00000399246.3:c.*702C>T	ENSP00000382190.3:n.*702C>T
ENST00000631130.1:c.-506C>T	ENSP00000486787.1:n.-506C>T
NM_000342.3:c.*702C>T	NP_000333.1:n.*702C>T
XM_005257593.3:c.*702C>T	XP_005257650.1:n.*702C>T
XM_011525129.1:c.*702C>T	XP_011523431.1:n.*702C>T
XM_005257593.5:c.*702C>T	XP_005257650.1:n.*702C>T
XM_011525129.2:c.*702C>T	XP_011523431.1:n.*702C>T
NM_000342.4:c.*702C>T MANE Select	NP_000333.1:n.*702C>T