Canonical Allele Identifier: CA12502363

Gene: AQP1

Linked Data

• dbSNP Id: rs1049305
• gnomAD v2: 7-30963822-G-C
• gnomAD v3: 7-30924207-G-C
• gnomAD v4: 7-30924207-G-C
• MyVariant Identifiers: chr7:g.30963822G>C (hg19) ; chr7:g.30924207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30924207G>C , CM000669.2:g.30924207G>C	GRCh38
NC_000007.13:g.30963822G>C , CM000669.1:g.30963822G>C	GRCh37
NC_000007.12:g.30930347G>C	NCBI36
NG_007475.2:g.75814G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311813.11:c.*578G>C MANE Select	ENSP00000311165.4:n.*578G>C
ENST00000441328.7:n.522G>C
ENST00000652692.1:c.622+554G>C
ENST00000652696.1:c.*405G>C	ENSP00000498672.1:n.*405G>C
ENST00000311813.8:c.*578G>C	ENSP00000311165.4:n.*578G>C
ENST00000441328.6:c.*578G>C	ENSP00000405698.2:n.*578G>C
NM_001185060.1:c.*578G>C	NP_001171989.1:n.*578G>C
NM_001185061.1:c.*578G>C	NP_001171990.1:n.*578G>C
NM_001185062.1:c.*578G>C	NP_001171991.1:n.*578G>C
NM_198098.2:c.*578G>C	NP_932766.1:n.*578G>C
NM_001329872.1:c.*198G>C	NP_001316801.1:n.*198G>C
NM_198098.3:c.*578G>C	NP_932766.1:n.*578G>C
NM_001329872.2:c.*198G>C	NP_001316801.1:n.*198G>C
NM_198098.4:c.*578G>C MANE Select	NP_932766.1:n.*578G>C